A0A1W2PQL4 · ZN722_HUMAN
- ProteinZinc finger protein 722
- GeneZNF722
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids384 (go to sequence)
- Protein existenceInferred from homology
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1475401779 | 2 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.771) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.63998966C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998966C>G Locations: - p.Ala2Gly (Ensembl:ENST00000330020) - c.5C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1788924530 | 2 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000007.14:g.63998965G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998965G>A Locations: - p.Ala2Thr (Ensembl:ENST00000330020) - c.4G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1475401779 | 2 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000007.14:g.63998966C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998966C>T Locations: - p.Ala2Val (Ensembl:ENST00000330020) - c.5C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs558999866 | 3 | E>V | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000007.14:g.63998969A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998969A>T Locations: - p.Glu3Val (Ensembl:ENST00000330020) - c.8A>T (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1023175569 | 5 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.63998975C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998975C>T Locations: - p.Pro5Leu (Ensembl:ENST00000330020) - c.14C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1788924656 | 6 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.63998978G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998978G>C Locations: - p.Gly6Ala (Ensembl:ENST00000330020) - c.17G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1788924656 | 6 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.63998978G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998978G>A Locations: - p.Gly6Glu (Ensembl:ENST00000330020) - c.17G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1212748695 | 7 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.63998980T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998980T>C Locations: - p.Ser7Pro (Ensembl:ENST00000330020) - c.19T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1788924765 | 9 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.259) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000007.14:g.63998987G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998987G>A Locations: - p.Gly9Glu (Ensembl:ENST00000330020) - c.26G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1466856674 | 10 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.63998991C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998991C>A Locations: - p.Ser10Arg (Ensembl:ENST00000330020) - c.30C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1274862120 | 11 | R>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.63998992C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998992C>T Locations: - p.Arg11Ter (Ensembl:ENST00000330020) - c.31C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1274862120 | 11 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000007.14:g.63998992C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998992C>G Locations: - p.Arg11Gly (Ensembl:ENST00000330020) - c.31C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs779868584 | 11 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000007.14:g.63998993G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.63998993G>A Locations: - p.Arg11Gln (Ensembl:ENST00000330020) - c.32G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1173359201 | 14 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64005612A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005612A>G Locations: - p.Arg14Gly (Ensembl:ENST00000330020) - c.40A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1200426060 | 20 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64005631A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005631A>G Locations: - p.Asp20Gly (Ensembl:ENST00000330020) - c.59A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1433264674 | 21 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64005634T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005634T>C Locations: - p.Ile21Thr (Ensembl:ENST00000330020) - c.62T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1363436643 | 24 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64005642G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005642G>C Locations: - p.Glu24Gln (Ensembl:ENST00000330020) - c.70G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1434895930 | 26 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64005649C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005649C>T Locations: - p.Ser26Phe (Ensembl:ENST00000330020) - c.77C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789006329 | 30 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64005662G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005662G>A Locations: - p.Trp30Ter (Ensembl:ENST00000330020) - c.90G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs985079072 | 32 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64005666T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005666T>C Locations: - p.Cys32Arg (Ensembl:ENST00000330020) - c.94T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789006393 | 32 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64005667G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005667G>A Locations: - p.Cys32Tyr (Ensembl:ENST00000330020) - c.95G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1483795989 | 34 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64005672G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005672G>T Locations: - p.Asp34Tyr (Ensembl:ENST00000330020) - c.100G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789006498 | 35 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64005675T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005675T>C Locations: - p.Cys35Arg (Ensembl:ENST00000330020) - c.103T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789006529 | 36 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64005678G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005678G>A Locations: - p.Ala36Thr (Ensembl:ENST00000330020) - c.106G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1275112518 | 37 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.168) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64005681C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005681C>A Locations: - p.Gln37Lys (Ensembl:ENST00000330020) - c.109C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1209856568 | 38 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64005684C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005684C>T Locations: - p.Gln38Ter (Ensembl:ENST00000330020) - c.112C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1345690120 | 38 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000007.14:g.64005685A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005685A>G Locations: - p.Gln38Arg (Ensembl:ENST00000330020) - c.113A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1257681782 | 39 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64005688A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005688A>G Locations: - p.Asn39Ser (Ensembl:ENST00000330020) - c.116A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1335258842 | 40 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64005692A>T Codon: TTA/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005692A>T Locations: - p.Leu40Phe (Ensembl:ENST00000330020) - c.120A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1304879747 | 43 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64005700A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005700A>G Locations: - p.Asp43Gly (Ensembl:ENST00000330020) - c.128A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1331398187 | 44 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64005702G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005702G>A Locations: - p.Val44Met (Ensembl:ENST00000330020) - c.130G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789006733 | 46 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64005710A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005710A>C Locations: - p.Leu46Phe (Ensembl:ENST00000330020) - c.138A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1351289079 | 49 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64005718A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005718A>G Locations: - p.Tyr49Cys (Ensembl:ENST00000330020) - c.146A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1312705757 | 52 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64005727T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005727T>C Locations: - p.Leu52Pro (Ensembl:ENST00000330020) - c.155T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1173661179 | 53 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000007.14:g.64005730T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005730T>C Locations: - p.Val53Ala (Ensembl:ENST00000330020) - c.158T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1433215264 | 53 | V>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64005729G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005729G>T Locations: - p.Val53Phe (Ensembl:ENST00000330020) - c.157G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs943320890 | 55 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64005736T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64005736T>C Locations: - p.Leu55Pro (Ensembl:ENST00000330020) - c.164T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs908227537 | 56 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64006224G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006224G>A Locations: - p.Gly56Asp (Ensembl:ENST00000330020) - c.167G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs908227537 | 56 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64006224G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006224G>T Locations: - p.Gly56Val (Ensembl:ENST00000330020) - c.167G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789011079 | 59 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64006232G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006232G>A Locations: - p.Asp59Asn (Ensembl:ENST00000330020) - c.175G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1247302657 | 60 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.64006236C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006236C>T Locations: - p.Ser60Phe (Ensembl:ENST00000330020) - c.179C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789011156 | 66 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64006253A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006253A>T Locations: - p.Thr66Ser (Ensembl:ENST00000330020) - c.196A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1181363860 | 67 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000007.14:g.64006256T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006256T>C Locations: - p.Cys67Arg (Ensembl:ENST00000330020) - c.199T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs17298044 | 69 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64006263A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006263A>G Locations: - p.Glu69Gly (Ensembl:ENST00000330020) - c.206A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs751396764 | 69 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64006262G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006262G>A Locations: - p.Glu69Lys (Ensembl:ENST00000330020) - c.205G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1409083053 | 71 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64006268A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006268A>C Locations: - p.Asn71His (Ensembl:ENST00000330020) - c.211A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
TCGA novel | 72 | K>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.64006272A>T Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006272A>T Locations: - c.215A>T (NCI-TCGA:ENST00000330020) - p.K72I (NCI-TCGA:ENST00000330020) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs199848466 | 74 | A>P | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64006277G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006277G>C Locations: - p.Ala74Pro (Ensembl:ENST00000330020) - c.220G>C (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs199848466 | 74 | A>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64006277G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006277G>T Locations: - p.Ala74Ser (Ensembl:ENST00000330020) - c.220G>T (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs192348269 | 77 | I>M | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.173) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.00117739 (1000Genomes) Accession: NC_000007.14:g.64006288A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006288A>G Locations: - p.Ile77Met (Ensembl:ENST00000330020) - c.231A>G (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1789011432 | 78 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64006290A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006290A>G Locations: - p.Lys78Arg (Ensembl:ENST00000330020) - c.233A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1347842052 | 80 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64006295A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006295A>G Locations: - p.Asn80Asp (Ensembl:ENST00000330020) - c.238A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs767275702 | 81 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64006298G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006298G>T Locations: - p.Glu81Ter (Ensembl:ENST00000330020) - c.241G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789011539 | 84 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000007.14:g.64006307G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006307G>A Locations: - p.Ala84Thr (Ensembl:ENST00000330020) - c.250G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789011596 | 86 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64006315C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006315C>A Locations: - p.His86Gln (Ensembl:ENST00000330020) - c.258C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1369121572 | 87 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.216) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64006316C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64006316C>G Locations: - p.Pro87Ala (Ensembl:ENST00000330020) - c.259C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1039523989 | 88 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000007.14:g.64015028T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015028T>C Locations: - p.Val88Ala (Ensembl:ENST00000330020) - c.263T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1039523989 | 88 | V>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015028T>A Codon: GTT/GAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015028T>A Locations: - p.Val88Asp (Ensembl:ENST00000330020) - c.263T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1039887963 | 89 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015031C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015031C>T Locations: - p.Thr89Met (Ensembl:ENST00000330020) - c.266C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1039887963 | 89 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015031C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015031C>G Locations: - p.Thr89Arg (Ensembl:ENST00000330020) - c.266C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789109297 | 90 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.64015033T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015033T>A Locations: - p.Cys90Ser (Ensembl:ENST00000330020) - c.268T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789109328 | 91 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015037C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015037C>T Locations: - p.Ser91Phe (Ensembl:ENST00000330020) - c.272C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1283130523 | 94 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015046C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015046C>A Locations: - p.Thr94Asn (Ensembl:ENST00000330020) - c.281C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs998852847 | 96 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015051G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015051G>C Locations: - p.Asp96His (Ensembl:ENST00000330020) - c.286G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789109490 | 97 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000007.14:g.64015054C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015054C>T Locations: - p.Leu97Phe (Ensembl:ENST00000330020) - c.289C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789109490 | 97 | L>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015054C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015054C>A Locations: - p.Leu97Ile (Ensembl:ENST00000330020) - c.289C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs12537344 | 99 | P>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.343) - SIFT: tolerated - low confidence (0.06) Somatic: No Population frequencies: - MAF: 0.442111 (1000Genomes) Accession: NC_000007.14:g.64015061C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015061C>T Locations: - p.Pro99Leu (Ensembl:ENST00000330020) - c.296C>T (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs182549911 | 104 | K>E | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated - low confidence (0.28) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015075A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015075A>G Locations: - p.Lys104Glu (Ensembl:ENST00000330020) - c.310A>G (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs956868029 | 105 | H>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015078C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015078C>G Locations: - p.His105Asp (Ensembl:ENST00000330020) - c.313C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs956868029 | 105 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000007.14:g.64015078C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015078C>A Locations: - p.His105Asn (Ensembl:ENST00000330020) - c.313C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs956868029 | 105 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015078C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015078C>T Locations: - p.His105Tyr (Ensembl:ENST00000330020) - c.313C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs866939191 | 108 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.259) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015088A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015088A>C Locations: - p.Gln108Pro (Ensembl:ENST00000330020) - c.323A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789109774 | 109 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000007.14:g.64015090A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015090A>G Locations: - p.Lys109Glu (Ensembl:ENST00000330020) - c.325A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs998585585 | 109 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.326) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015092A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015092A>C Locations: - p.Lys109Asn (Ensembl:ENST00000330020) - c.327A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789109833 | 111 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015096A>C Codon: ATA/CTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015096A>C Locations: - p.Ile111Leu (Ensembl:ENST00000330020) - c.331A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs535469243 | 111 | I>M | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015098A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015098A>G Locations: - p.Ile111Met (Ensembl:ENST00000330020) - c.333A>G (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1478066115 | 111 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000007.14:g.64015097T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015097T>C Locations: - p.Ile111Thr (Ensembl:ENST00000330020) - c.332T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1401544180 | 113 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015103G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015103G>C Locations: - p.Arg113Thr (Ensembl:ENST00000330020) - c.338G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1390058626 | 114 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015106C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015106C>T Locations: - p.Thr114Ile (Ensembl:ENST00000330020) - c.341C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2096613792 | 114 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.405) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015105A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015105A>C Locations: - p.Thr114Pro (Ensembl:ENST00000330020) - c.340A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116207191 | 115 | Y>H | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000007.14:g.64015108T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015108T>C Locations: - p.Tyr115His (Ensembl:ENST00000330020) - c.343T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs555739016 | 118 | C>Y | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated - low confidence (0.15) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015118G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015118G>A Locations: - p.Cys118Tyr (Ensembl:ENST00000330020) - c.353G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs746464850 | 120 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.186) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015124A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015124A>G Locations: - p.His120Arg (Ensembl:ENST00000330020) - c.359A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789110117 | 122 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015131T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015131T>A Locations: - p.Asn122Lys (Ensembl:ENST00000330020) - c.366T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1032747150 | 122 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015130A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015130A>G Locations: - p.Asn122Ser (Ensembl:ENST00000330020) - c.365A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1446909982 | 123 | L>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.392) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015133T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015133T>C Locations: - p.Leu123Ser (Ensembl:ENST00000330020) - c.368T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789110199 | 124 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015135C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015135C>T Locations: - p.Gln124Ter (Ensembl:ENST00000330020) - c.370C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1461694231 | 124 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015136A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015136A>T Locations: - p.Gln124Leu (Ensembl:ENST00000330020) - c.371A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1584124226 | 125 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015140T>A Codon: TTT/TTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015140T>A Locations: - p.Phe125Leu (Ensembl:ENST00000330020) - c.375T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789110266 | 125 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015138T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015138T>C Locations: - p.Phe125Leu (Ensembl:ENST00000330020) - c.373T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1394786571 | 128 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000007.14:g.64015148G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015148G>T Locations: - p.Cys128Phe (Ensembl:ENST00000330020) - c.383G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1025093476 | 128 | C>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015147T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015147T>C Locations: - p.Cys128Arg (Ensembl:ENST00000330020) - c.382T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116207290 | 129 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015150T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015150T>C Locations: - p.Cys129Arg (Ensembl:ENST00000330020) - c.385T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116207295 | 129 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000007.14:g.64015151G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015151G>A Locations: - p.Cys129Tyr (Ensembl:ENST00000330020) - c.386G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1447249350 | 130 | K>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015154A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015154A>T Locations: - p.Lys130Ile (Ensembl:ENST00000330020) - c.389A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs957130357 | 131 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015157G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015157G>C Locations: - p.Ser131Thr (Ensembl:ENST00000330020) - c.392G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs541730807 | 132 | V>M | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: tolerated - low confidence (0.13) Somatic: No Population frequencies: - MAF: 0.000784929 (1000Genomes) Accession: NC_000007.14:g.64015159G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015159G>A Locations: - p.Val132Met (Ensembl:ENST00000330020) - c.394G>A (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs2116207344 | 133 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015162G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015162G>A Locations: - p.Gly133Ser (Ensembl:ENST00000330020) - c.397G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789110508 | 134 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000007.14:g.64015167G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015167G>C Locations: - p.Glu134Asp (Ensembl:ENST00000330020) - c.402G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1292397053 | 135 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000007.14:g.64015169G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015169G>A Locations: - p.Cys135Tyr (Ensembl:ENST00000330020) - c.404G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789110551 | 137 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000007.14:g.64015174G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015174G>A Locations: - p.Val137Met (Ensembl:ENST00000330020) - c.409G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1227636723 | 138 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015178A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015178A>G Locations: - p.His138Arg (Ensembl:ENST00000330020) - c.413A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs796768440 | 139 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.337) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015180A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015180A>C Locations: - p.Lys139Gln (Ensembl:ENST00000330020) - c.415A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs375207542 | 141 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.216) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000007.14:g.64015187G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015187G>T Locations: - p.Gly141Val (Ensembl:ENST00000330020) - c.422G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1012751139 | 142 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015190A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015190A>C Locations: - p.Tyr142Ser (Ensembl:ENST00000330020) - c.425A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs183965423 | 144 | E>D | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.21) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015197A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015197A>C Locations: - p.Glu144Asp (Ensembl:ENST00000330020) - c.432A>C (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1789110739 | 144 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015196A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015196A>G Locations: - p.Glu144Gly (Ensembl:ENST00000330020) - c.431A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs188910948 | 145 | V>F | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015198G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015198G>T Locations: - p.Val145Phe (Ensembl:ENST00000330020) - c.433G>T (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs188910948 | 145 | V>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015198G>C Codon: GTT/CTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015198G>C Locations: - p.Val145Leu (Ensembl:ENST00000330020) - c.433G>C (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs193087689 | 146 | K>N | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015203G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015203G>C Locations: - p.Lys146Asn (Ensembl:ENST00000330020) - c.438G>C (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1689160972 | 147 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015204C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015204C>T Locations: - p.Gln147Ter (Ensembl:ENST00000330020) - c.439C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1483982906 | 148 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000007.14:g.64015207T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015207T>A Locations: - p.Cys148Ser (Ensembl:ENST00000330020) - c.442T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1366335150 | 148 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015208G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015208G>A Locations: - p.Cys148Tyr (Ensembl:ENST00000330020) - c.443G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789111269 | 150 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015214C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015214C>T Locations: - p.Ser150Leu (Ensembl:ENST00000330020) - c.449C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789111293 | 151 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015216A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015216A>G Locations: - p.Asn151Asp (Ensembl:ENST00000330020) - c.451A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs531475742 | 156 | I>V | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.2) Somatic: No Population frequencies: - MAF: 0.000981162 (1000Genomes) Accession: NC_000007.14:g.64015231A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015231A>G Locations: - p.Ile156Val (Ensembl:ENST00000330020) - c.466A>G (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs541419979 | 158 | Q>E | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015237C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015237C>G Locations: - p.Gln158Glu (Ensembl:ENST00000330020) - c.472C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1168873412 | 159 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015241C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015241C>T Locations: - p.Thr159Ile (Ensembl:ENST00000330020) - c.476C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789111840 | 161 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.297) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015247A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015247A>G Locations: - p.Lys161Arg (Ensembl:ENST00000330020) - c.482A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs867426537 | 163 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000007.14:g.64015252G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015252G>A Locations: - p.Val163Ile (Ensembl:ENST00000330020) - c.487G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1245768869 | 166 | F>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015262T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015262T>G Locations: - p.Phe166Cys (Ensembl:ENST00000330020) - c.497T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs951448840 | 168 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.64015267A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015267A>C Locations: - p.Lys168Gln (Ensembl:ENST00000330020) - c.502A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116207546 | 171 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015276A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015276A>G Locations: - p.Asn171Asp (Ensembl:ENST00000330020) - c.511A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1490691285 | 172 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015280G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015280G>A Locations: - p.Cys172Tyr (Ensembl:ENST00000330020) - c.515G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1269025576 | 173 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000007.14:g.64015282A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015282A>G Locations: - p.Asn173Asp (Ensembl:ENST00000330020) - c.517A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112057 | 173 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.64015283A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015283A>G Locations: - p.Asn173Ser (Ensembl:ENST00000330020) - c.518A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs982827211 | 174 | R>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.452) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015286G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015286G>T Locations: - p.Arg174Ile (Ensembl:ENST00000330020) - c.521G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112139 | 175 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.557) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015289A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015289A>C Locations: - p.His175Pro (Ensembl:ENST00000330020) - c.524A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112139 | 175 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000007.14:g.64015289A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015289A>G Locations: - p.His175Arg (Ensembl:ENST00000330020) - c.524A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112115 | 175 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000007.14:g.64015288C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015288C>T Locations: - p.His175Tyr (Ensembl:ENST00000330020) - c.523C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1421252712 | 176 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015291G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015291G>A Locations: - p.Glu176Lys (Ensembl:ENST00000330020) - c.526G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1584124281 | 177 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015294A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015294A>G Locations: - p.Thr177Ala (Ensembl:ENST00000330020) - c.529A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112222 | 177 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015295C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015295C>T Locations: - p.Thr177Ile (Ensembl:ENST00000330020) - c.530C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112283 | 179 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015300T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015300T>C Locations: - p.Tyr179His (Ensembl:ENST00000330020) - c.535T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1214945814 | 180 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015304C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015304C>T Locations: - p.Thr180Ile (Ensembl:ENST00000330020) - c.539C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
TCGA novel | 181 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.64015306G>A Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015306G>A Locations: - c.541G>A (NCI-TCGA:ENST00000330020) - p.G181R (NCI-TCGA:ENST00000330020) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1789112344 | 182 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015310A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015310A>C Locations: - p.Lys182Thr (Ensembl:ENST00000330020) - c.545A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1344121515 | 184 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000007.14:g.64015315C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015315C>T Locations: - p.His184Tyr (Ensembl:ENST00000330020) - c.550C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112395 | 185 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000007.14:g.64015320C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015320C>G Locations: - p.Phe185Leu (Ensembl:ENST00000330020) - c.555C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1281598414 | 186 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.385) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015321A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015321A>G Locations: - p.Lys186Glu (Ensembl:ENST00000330020) - c.556A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112449 | 186 | K>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015322A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015322A>C Locations: - p.Lys186Thr (Ensembl:ENST00000330020) - c.557A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112473 | 187 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015325G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015325G>A Locations: - p.Cys187Tyr (Ensembl:ENST00000330020) - c.560G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112501 | 188 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015329A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015329A>C Locations: - p.Lys188Asn (Ensembl:ENST00000330020) - c.564A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112532 | 189 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015331A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015331A>C Locations: - p.Lys189Thr (Ensembl:ENST00000330020) - c.566A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116207648 | 192 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000007.14:g.64015340A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015340A>G Locations: - p.Lys192Arg (Ensembl:ENST00000330020) - c.575A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs929586997 | 193 | S>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000007.14:g.64015343C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015343C>T Locations: - p.Ser193Leu (Ensembl:ENST00000330020) - c.578C>T (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs929586997 | 193 | S>W | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015343C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015343C>G Locations: - p.Ser193Trp (Ensembl:ENST00000330020) - c.578C>G (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1356797739 | 194 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.739) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015346T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015346T>G Locations: - p.Phe194Cys (Ensembl:ENST00000330020) - c.581T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112715 | 196 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015351A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015351A>C Locations: - p.Met196Leu (Ensembl:ENST00000330020) - c.586A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112739 | 197 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000007.14:g.64015354C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015354C>T Locations: - p.Pro197Ser (Ensembl:ENST00000330020) - c.589C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789112779 | 200 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.433) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015363C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015363C>G Locations: - p.Leu200Val (Ensembl:ENST00000330020) - c.598C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs768743947 | 201 | N>K | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015368T>G, NC_000007.14:g.64015368T>A Codon: AAT/AAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015368T>G, NC_000007.14:g.64015368T>A Locations: - p.Asn201Lys (Ensembl:ENST00000330020) - c.603T>G (Ensembl:ENST00000330020) - c.603T>A (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1414252437 | 201 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000007.14:g.64015367A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015367A>G Locations: - p.Asn201Ser (Ensembl:ENST00000330020) - c.602A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs987482186 | 202 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015369C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015369C>G Locations: - p.Gln202Glu (Ensembl:ENST00000330020) - c.604C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1429322312 | 202 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015371A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015371A>C Locations: - p.Gln202His (Ensembl:ENST00000330020) - c.606A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116207728 | 203 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015372C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015372C>T Locations: - p.His203Tyr (Ensembl:ENST00000330020) - c.607C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1180845445 | 205 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000007.14:g.64015378A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015378A>G Locations: - p.Ile205Val (Ensembl:ENST00000330020) - c.613A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs941484117 | 207 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015385A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015385A>G Locations: - p.His207Arg (Ensembl:ENST00000330020) - c.620A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
TCGA novel | 210 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.64015395G>C Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015395G>C Locations: - c.630G>C (NCI-TCGA:ENST00000330020) - p.E210D (NCI-TCGA:ENST00000330020) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1789113014 | 213 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015404C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015404C>G Locations: - p.Tyr213Ter (Ensembl:ENST00000330020) - c.639C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1361677384 | 213 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.404) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015403A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015403A>G Locations: - p.Tyr213Cys (Ensembl:ENST00000330020) - c.638A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1234526937 | 215 | C>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015410T>G Codon: TGT/TGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015410T>G Locations: - p.Cys215Trp (Ensembl:ENST00000330020) - c.645T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs200480213 | 219 | G>C | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.418) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015420G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015420G>T Locations: - p.Gly219Cys (Ensembl:ENST00000330020) - c.655G>T (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs200480213 | 219 | G>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.264) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015420G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015420G>A Locations: - p.Gly219Ser (Ensembl:ENST00000330020) - c.655G>A (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs934236471 | 222 | F>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.283) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015430T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015430T>A Locations: - p.Phe222Tyr (Ensembl:ENST00000330020) - c.665T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
TCGA novel | 223 | K>N | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000007.14:g.64015432del Consequence type: frameshift Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015432del Locations: - c.669del (NCI-TCGA:ENST00000330020) - p.K223Nfs*151 (NCI-TCGA:ENST00000330020) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1051796770 | 224 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000007.14:g.64015435C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015435C>T Locations: - p.Arg224Cys (Ensembl:ENST00000330020) - c.670C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1324561968 | 224 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000007.14:g.64015436G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015436G>A Locations: - p.Arg224His (Ensembl:ENST00000330020) - c.671G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116207821 | 225 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000007.14:g.64015439C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015439C>T Locations: - p.Ser225Phe (Ensembl:ENST00000330020) - c.674C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs903463078 | 225 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000007.14:g.64015438T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015438T>C Locations: - p.Ser225Pro (Ensembl:ENST00000330020) - c.673T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1287739494 | 226 | S>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015442C>G Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015442C>G Locations: - p.Ser226Ter (Ensembl:ENST00000330020) - c.677C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs998906762 | 227 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000007.14:g.64015446C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015446C>G Locations: - p.Asn227Lys (Ensembl:ENST00000330020) - c.681C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1222141375 | 228 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015448G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015448G>C Locations: - p.Cys228Ser (Ensembl:ENST00000330020) - c.683G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1054159241 | 229 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015450A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015450A>G Locations: - p.Thr229Ala (Ensembl:ENST00000330020) - c.685A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs189087142 | 229 | T>N | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.36) - SIFT: tolerated - low confidence (0.06) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015451C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015451C>A Locations: - p.Thr229Asn (Ensembl:ENST00000330020) - c.686C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1054159241 | 229 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015450A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015450A>C Locations: - p.Thr229Pro (Ensembl:ENST00000330020) - c.685A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs189087142 | 229 | T>S | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: tolerated - low confidence (0.09) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015451C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015451C>G Locations: - p.Thr229Ser (Ensembl:ENST00000330020) - c.686C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1375695520 | 230 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000007.14:g.64015453A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015453A>G Locations: - p.Thr230Ala (Ensembl:ENST00000330020) - c.688A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789113408 | 232 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015459A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015459A>G Locations: - p.Lys232Glu (Ensembl:ENST00000330020) - c.694A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789113427 | 232 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000007.14:g.64015460A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015460A>G Locations: - p.Lys232Arg (Ensembl:ENST00000330020) - c.695A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs892882269 | 233 | R>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000007.14:g.64015463G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015463G>T Locations: - p.Arg233Ile (Ensembl:ENST00000330020) - c.698G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs892882269 | 233 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000007.14:g.64015463G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015463G>A Locations: - p.Arg233Lys (Ensembl:ENST00000330020) - c.698G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs911904372 | 233 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.64015464A>T Codon: AGA/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015464A>T Locations: - p.Arg233Ser (Ensembl:ENST00000330020) - c.699A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116207923 | 235 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015468C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015468C>A Locations: - p.His235Asn (Ensembl:ENST00000330020) - c.703C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1012677529 | 236 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015471A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015471A>G Locations: - p.Thr236Ala (Ensembl:ENST00000330020) - c.706A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116207932 | 236 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000007.14:g.64015472C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015472C>T Locations: - p.Thr236Ile (Ensembl:ENST00000330020) - c.707C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789113560 | 239 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015482A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015482A>T Locations: - p.Lys239Asn (Ensembl:ENST00000330020) - c.717A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1313599431 | 240 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000007.14:g.64015484C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015484C>T Locations: - p.Pro240Leu (Ensembl:ENST00000330020) - c.719C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs971652562 | 241 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.672) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015487A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015487A>G Locations: - p.Tyr241Cys (Ensembl:ENST00000330020) - c.722A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs529715543 | 241 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015486T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015486T>C Locations: - p.Tyr241His (Ensembl:ENST00000330020) - c.721T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789113692 | 242 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015490G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015490G>A Locations: - p.Arg242Lys (Ensembl:ENST00000330020) - c.725G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789113707 | 243 | C>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015492T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015492T>A Locations: - p.Cys243Ser (Ensembl:ENST00000330020) - c.727T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs191647560 | 243 | C>Y | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.679) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015493G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015493G>A Locations: - p.Cys243Tyr (Ensembl:ENST00000330020) - c.728G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs879157288 | 244 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015497G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015497G>C Locations: - p.Glu244Asp (Ensembl:ENST00000330020) - c.732G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1039156608 | 244 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000007.14:g.64015495G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015495G>A Locations: - p.Glu244Lys (Ensembl:ENST00000330020) - c.730G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1416776878 | 247 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.333) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015505G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015505G>A Locations: - p.Gly247Asp (Ensembl:ENST00000330020) - c.740G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1409586691 | 249 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000007.14:g.64015511C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015511C>T Locations: - p.Ala249Val (Ensembl:ENST00000330020) - c.746C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1002741545 | 250 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015513T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015513T>G Locations: - p.Phe250Val (Ensembl:ENST00000330020) - c.748T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs878875581 | 253 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015522C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015522C>T Locations: - p.Pro253Ser (Ensembl:ENST00000330020) - c.757C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs899640989 | 254 | S>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000007.14:g.64015525T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015525T>G Locations: - p.Ser254Ala (Ensembl:ENST00000330020) - c.760T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs879200800 | 255 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015529A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015529A>C Locations: - p.Asn255Thr (Ensembl:ENST00000330020) - c.764A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1260737909 | 256 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.64015531C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015531C>T Locations: - p.Leu256Phe (Ensembl:ENST00000330020) - c.766C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1260737909 | 256 | L>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.577) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015531C>A Codon: CTT/ATT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015531C>A Locations: - p.Leu256Ile (Ensembl:ENST00000330020) - c.766C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs879119477 | 258 | R>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000007.14:g.64015539A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015539A>C Locations: - p.Arg258Ser (Ensembl:ENST00000330020) - c.774A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1267730833 | 259 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015541A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015541A>G Locations: - p.His259Arg (Ensembl:ENST00000330020) - c.776A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789114073 | 259 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015540C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015540C>T Locations: - p.His259Tyr (Ensembl:ENST00000330020) - c.775C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1213982709 | 260 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.64015543A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015543A>G Locations: - p.Lys260Glu (Ensembl:ENST00000330020) - c.778A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1318781993 | 260 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.323) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015545G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015545G>T Locations: - p.Lys260Asn (Ensembl:ENST00000330020) - c.780G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789114184 | 261 | R>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000007.14:g.64015547G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015547G>T Locations: - p.Arg261Ile (Ensembl:ENST00000330020) - c.782G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789114208 | 261 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000007.14:g.64015548A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015548A>C Locations: - p.Arg261Ser (Ensembl:ENST00000330020) - c.783A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs950703653 | 262 | I>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015549A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015549A>T Locations: - p.Ile262Phe (Ensembl:ENST00000330020) - c.784A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
TCGA novel | 263 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.64015552C>T Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015552C>T Locations: - c.787C>T (NCI-TCGA:ENST00000330020) - p.H263Y (NCI-TCGA:ENST00000330020) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1485459505 | 265 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.31) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015559G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015559G>C Locations: - p.Gly265Ala (Ensembl:ENST00000330020) - c.794G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1584124357 | 266 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015563G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015563G>T Locations: - p.Glu266Asp (Ensembl:ENST00000330020) - c.798G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs570009868 | 268 | P>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: tolerated - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015567C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015567C>T Locations: - p.Pro268Ser (Ensembl:ENST00000330020) - c.802C>T (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs570009868 | 268 | P>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.39) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015567C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015567C>A Locations: - p.Pro268Thr (Ensembl:ENST00000330020) - c.802C>A (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1789114386 | 269 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015571A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015571A>G Locations: - p.Tyr269Cys (Ensembl:ENST00000330020) - c.806A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs982739081 | 270 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015573A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015573A>G Locations: - p.Thr270Ala (Ensembl:ENST00000330020) - c.808A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789114468 | 270 | T>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015574C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015574C>A Locations: - p.Thr270Lys (Ensembl:ENST00000330020) - c.809C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116208101 | 271 | C>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015578T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015578T>A Locations: - p.Cys271Ter (Ensembl:ENST00000330020) - c.813T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789114605 | 271 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015576T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015576T>A Locations: - p.Cys271Ser (Ensembl:ENST00000330020) - c.811T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1381244579 | 272 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000007.14:g.64015579G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015579G>A Locations: - p.Glu272Lys (Ensembl:ENST00000330020) - c.814G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789114638 | 273 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.64015582G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015582G>A Locations: - p.Glu273Lys (Ensembl:ENST00000330020) - c.817G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1317530058 | 274 | C>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015585T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015585T>G Locations: - p.Cys274Gly (Ensembl:ENST00000330020) - c.820T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs878917136 | 276 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015591C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015591C>A Locations: - p.Gln276Lys (Ensembl:ENST00000330020) - c.826C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1173038103 | 279 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000007.14:g.64015601G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015601G>A Locations: - p.Arg279Lys (Ensembl:ENST00000330020) - c.836G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs112752244 | 280 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.17) - PolyPhen: benign (0.092) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000007.14:g.64015603C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015603C>T Locations: - p.R280C (NCI-TCGA:ENST00000330020) - p.Arg280Cys (Ensembl:ENST00000330020) - c.838C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs555445618 | 280 | R>H | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000007.14:g.64015604G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015604G>A Locations: - p.Arg280His (Ensembl:ENST00000330020) - c.839G>A (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs555445618 | 280 | R>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000007.14:g.64015604G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015604G>T Locations: - p.Arg280Leu (Ensembl:ENST00000330020) - c.839G>T (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1789114930 | 281 | S>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.228) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015606T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015606T>G Locations: - p.Ser281Ala (Ensembl:ENST00000330020) - c.841T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789114930 | 281 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015606T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015606T>A Locations: - p.Ser281Thr (Ensembl:ENST00000330020) - c.841T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1584124383 | 282 | S>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015610C>G Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015610C>G Locations: - p.Ser282Ter (Ensembl:ENST00000330020) - c.845C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789114972 | 282 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015609T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015609T>C Locations: - p.Ser282Pro (Ensembl:ENST00000330020) - c.844T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789114972 | 282 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000007.14:g.64015609T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015609T>A Locations: - p.Ser282Thr (Ensembl:ENST00000330020) - c.844T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789115020 | 283 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000007.14:g.64015612A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015612A>C Locations: - p.Thr283Pro (Ensembl:ENST00000330020) - c.847A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1383307301 | 284 | L>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015616T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015616T>A Locations: - p.Leu284His (Ensembl:ENST00000330020) - c.851T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1185407977 | 285 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015619C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015619C>T Locations: - p.Thr285Ile (Ensembl:ENST00000330020) - c.854C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1444999147 | 286 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015623C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015623C>A Locations: - p.Asn286Lys (Ensembl:ENST00000330020) - c.858C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789115147 | 287 | H>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015624C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015624C>A Locations: - p.His287Asn (Ensembl:ENST00000330020) - c.859C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1024555628 | 287 | H>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015625A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015625A>C Locations: - p.His287Pro (Ensembl:ENST00000330020) - c.860A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
COSV57427615 | 289 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.492) - SIFT: tolerated (0.47) Somatic: Yes Accession: NC_000007.14:g.64015631G>A Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015631G>A Locations: - c.866G>A (NCI-TCGA:ENST00000330020) - p.R289K (NCI-TCGA:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789115206 | 291 | H>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015637A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015637A>C Locations: - p.His291Pro (Ensembl:ENST00000330020) - c.872A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789115236 | 292 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015640C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015640C>T Locations: - p.Thr292Ile (Ensembl:ENST00000330020) - c.875C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116208239 | 292 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000007.14:g.64015639A>T Codon: ACT/TCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015639A>T Locations: - p.Thr292Ser (Ensembl:ENST00000330020) - c.874A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1184964634 | 293 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.465) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015642G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015642G>A Locations: - p.Gly293Arg (Ensembl:ENST00000330020) - c.877G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1344972629 | 295 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015649G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015649G>A Locations: - p.Arg295Lys (Ensembl:ENST00000330020) - c.884G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs934139446 | 296 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.52) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015652C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015652C>A Locations: - p.Pro296His (Ensembl:ENST00000330020) - c.887C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789115305 | 296 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.475) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015651C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015651C>A Locations: - p.Pro296Thr (Ensembl:ENST00000330020) - c.886C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789115347 | 298 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015657A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015657A>G Locations: - p.Lys298Glu (Ensembl:ENST00000330020) - c.892A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs769828972 | 298 | K>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.614) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000007.14:g.64015658A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015658A>C Locations: - p.Lys298Thr (Ensembl:ENST00000330020) - c.893A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1220936171 | 299 | C>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015662_64015663del Codon: TGTGAA/TGAA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015662_64015663del Locations: - p.Cys299Ter (Ensembl:ENST00000330020) - c.897_898del (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs906225415 | 299 | C>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015660T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015660T>G Locations: - p.Cys299Gly (Ensembl:ENST00000330020) - c.895T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1437555080 | 300 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015663G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015663G>C Locations: - p.Glu300Gln (Ensembl:ENST00000330020) - c.898G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1294570285 | 302 | C>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015669T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015669T>G Locations: - p.Cys302Gly (Ensembl:ENST00000330020) - c.904T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1295669402 | 303 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015673G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015673G>A Locations: - p.Gly303Asp (Ensembl:ENST00000330020) - c.908G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1295669402 | 303 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.713) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015673G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015673G>T Locations: - p.Gly303Val (Ensembl:ENST00000330020) - c.908G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1364883037 | 304 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.64015676A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015676A>G Locations: - p.Lys304Arg (Ensembl:ENST00000330020) - c.911A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789115849 | 305 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000007.14:g.64015678G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015678G>A Locations: - p.Ala305Thr (Ensembl:ENST00000330020) - c.913G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs987008228 | 307 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000007.14:g.64015684A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015684A>C Locations: - p.Ser307Arg (Ensembl:ENST00000330020) - c.919A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs566082708 | 308 | V>I | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.41) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.64015687G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015687G>A Locations: - p.Val308Ile (Ensembl:ENST00000330020) - c.922G>A (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1438300745 | 309 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000007.14:g.64015691C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015691C>T Locations: - p.Ser309Phe (Ensembl:ENST00000330020) - c.926C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789115955 | 310 | S>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015694C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015694C>A Locations: - p.Ser310Ter (Ensembl:ENST00000330020) - c.929C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs534733625 | 311 | T>A | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.29) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015696A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015696A>G Locations: - p.Thr311Ala (Ensembl:ENST00000330020) - c.931A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs200988941 | 313 | N>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.64015703A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015703A>G Locations: - p.Asn313Ser (Ensembl:ENST00000330020) - c.938A>G (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs200988941 | 313 | N>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.64015703A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015703A>C Locations: - p.Asn313Thr (Ensembl:ENST00000330020) - c.938A>C (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs184234880 | 317 | R>G | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated - low confidence (0.2) Somatic: No Population frequencies: - MAF: 0.00274725 (1000Genomes) Accession: NC_000007.14:g.64015714A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015714A>G Locations: - p.Arg317Gly (Ensembl:ENST00000330020) - c.949A>G (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1242212464 | 317 | R>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated - low confidence (0.62) Somatic: No Accession: NC_000007.14:g.64015715G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015715G>T Locations: - p.Arg317Ile (Ensembl:ENST00000330020) - c.950G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1054087572 | 318 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.533) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015718T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015718T>C Locations: - p.Ile318Thr (Ensembl:ENST00000330020) - c.953T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789116134 | 319 | H>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015720C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015720C>G Locations: - p.His319Asp (Ensembl:ENST00000330020) - c.955C>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789116152 | 320 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015724C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015724C>T Locations: - p.Thr320Ile (Ensembl:ENST00000330020) - c.959C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs189346524 | 322 | E>D | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000007.14:g.64015731G>C, NC_000007.14:g.64015731G>T Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015731G>C, NC_000007.14:g.64015731G>T Locations: - p.Glu322Asp (Ensembl:ENST00000330020) - c.966G>C (Ensembl:ENST00000330020) - c.966G>T (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1165364923 | 322 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015730A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015730A>G Locations: - p.Glu322Gly (Ensembl:ENST00000330020) - c.965A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs892827363 | 322 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000007.14:g.64015729G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015729G>A Locations: - p.Glu322Lys (Ensembl:ENST00000330020) - c.964G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789116361 | 325 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015738T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015738T>C Locations: - p.Tyr325His (Ensembl:ENST00000330020) - c.973T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1430457597 | 326 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015741A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015741A>G Locations: - p.Thr326Ala (Ensembl:ENST00000330020) - c.976A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1262692238 | 326 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015742C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015742C>T Locations: - p.Thr326Ile (Ensembl:ENST00000330020) - c.977C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1262692238 | 326 | T>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015742C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015742C>A Locations: - p.Thr326Lys (Ensembl:ENST00000330020) - c.977C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789116549 | 327 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015745G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015745G>T Locations: - p.Cys327Phe (Ensembl:ENST00000330020) - c.980G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1271190470 | 327 | C>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015746T>G Codon: TGT/TGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015746T>G Locations: - p.Cys327Trp (Ensembl:ENST00000330020) - c.981T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1223826140 | 328 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015747G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015747G>T Locations: - p.Glu328Ter (Ensembl:ENST00000330020) - c.982G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789116621 | 328 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.672) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015748A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015748A>T Locations: - p.Glu328Val (Ensembl:ENST00000330020) - c.983A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs557142271 | 329 | E>K | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015750G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015750G>A Locations: - p.Glu329Lys (Ensembl:ENST00000330020) - c.985G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs879095006 | 332 | R>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.45) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015760G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015760G>T Locations: - p.Arg332Ile (Ensembl:ENST00000330020) - c.995G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs879095006 | 332 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015760G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015760G>A Locations: - p.Arg332Lys (Ensembl:ENST00000330020) - c.995G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789116771 | 332 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015761A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015761A>C Locations: - p.Arg332Ser (Ensembl:ENST00000330020) - c.996A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs879095006 | 332 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015760G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015760G>C Locations: - p.Arg332Thr (Ensembl:ENST00000330020) - c.995G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789116795 | 333 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015762G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015762G>T Locations: - p.Ala333Ser (Ensembl:ENST00000330020) - c.997G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789116837 | 335 | N>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000007.14:g.64015769A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015769A>T Locations: - p.Asn335Ile (Ensembl:ENST00000330020) - c.1004A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789116859 | 335 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000007.14:g.64015770C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015770C>A Locations: - p.Asn335Lys (Ensembl:ENST00000330020) - c.1005C>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789116884 | 336 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000007.14:g.64015771T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015771T>C Locations: - p.Cys336Arg (Ensembl:ENST00000330020) - c.1006T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs180991987 | 338 | S>A | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.64015777T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015777T>G Locations: - p.Ser338Ala (Ensembl:ENST00000330020) - c.1012T>G (Ensembl:ENST00000330020) Source type: large scale study | |||||||
rs1789116959 | 339 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000007.14:g.64015780A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015780A>G Locations: - p.Thr339Ala (Ensembl:ENST00000330020) - c.1015A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117010 | 340 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000007.14:g.64015783C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015783C>T Locations: - p.Leu340Phe (Ensembl:ENST00000330020) - c.1018C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1003117183 | 341 | K>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015786A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015786A>T Locations: - p.Lys341Ter (Ensembl:ENST00000330020) - c.1021A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs878990891 | 341 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000007.14:g.64015788G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015788G>T Locations: - p.Lys341Asn (Ensembl:ENST00000330020) - c.1023G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1003117183 | 341 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015786A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015786A>C Locations: - p.Lys341Gln (Ensembl:ENST00000330020) - c.1021A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1295823756 | 342 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000007.14:g.64015790C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015790C>T Locations: - p.Thr342Ile (Ensembl:ENST00000330020) - c.1025C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1403999446 | 343 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015793A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015793A>G Locations: - p.His343Arg (Ensembl:ENST00000330020) - c.1028A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs775126677 | 345 | R>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: NC_000007.14:g.64015799G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015799G>T Locations: - p.Arg345Ile (Ensembl:ENST00000330020) - c.1034G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs775126677 | 345 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000007.14:g.64015799G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015799G>A Locations: - p.Arg345Lys (Ensembl:ENST00000330020) - c.1034G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117174 | 346 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015801A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015801A>T Locations: - p.Ile346Phe (Ensembl:ENST00000330020) - c.1036A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117196 | 349 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.242) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015811G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015811G>C Locations: - p.Gly349Ala (Ensembl:ENST00000330020) - c.1046G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1304456827 | 352 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.196) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000007.14:g.64015820C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015820C>T Locations: - p.Pro352Leu (Ensembl:ENST00000330020) - c.1055C>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs988131862 | 354 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015825A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015825A>C Locations: - p.Lys354Gln (Ensembl:ENST00000330020) - c.1060A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117324 | 358 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015837T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015837T>C Locations: - p.Cys358Arg (Ensembl:ENST00000330020) - c.1072T>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117324 | 358 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015837T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015837T>A Locations: - p.Cys358Ser (Ensembl:ENST00000330020) - c.1072T>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117358 | 359 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015840G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015840G>T Locations: - p.Asp359Tyr (Ensembl:ENST00000330020) - c.1075G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1238847527 | 362 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015849T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015849T>G Locations: - p.Phe362Val (Ensembl:ENST00000330020) - c.1084T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1231584291 | 364 | R>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000007.14:g.64015855A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015855A>T Locations: - p.Arg364Trp (Ensembl:ENST00000330020) - c.1090A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117450 | 365 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000007.14:g.64015860T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015860T>G Locations: - p.His365Gln (Ensembl:ENST00000330020) - c.1095T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1441693209 | 367 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000007.14:g.64015864A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015864A>G Locations: - p.Ser367Gly (Ensembl:ENST00000330020) - c.1099A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117515 | 369 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015870G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015870G>C Locations: - p.Ala369Pro (Ensembl:ENST00000330020) - c.1105G>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117515 | 369 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000007.14:g.64015870G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015870G>T Locations: - p.Ala369Ser (Ensembl:ENST00000330020) - c.1105G>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117553 | 370 | K>* | 1000Genomes gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.64015873A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015873A>T Locations: - p.Lys370Ter (Ensembl:ENST00000330020) - c.1108A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117553 | 370 | K>E | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000007.14:g.64015873A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015873A>G Locations: - p.Lys370Glu (Ensembl:ENST00000330020) - c.1108A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs911873348 | 371 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015877A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015877A>G Locations: - p.His371Arg (Ensembl:ENST00000330020) - c.1112A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1176865971 | 373 | I>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015883T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015883T>G Locations: - p.Ile373Arg (Ensembl:ENST00000330020) - c.1118T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117598 | 373 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000007.14:g.64015882A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015882A>G Locations: - p.Ile373Val (Ensembl:ENST00000330020) - c.1117A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs886322298 | 374 | I>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.258) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015886T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015886T>G Locations: - p.Ile374Ser (Ensembl:ENST00000330020) - c.1121T>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs543323192 | 375 | H>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000007.14:g.64015889A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015889A>C Locations: - p.His375Pro (Ensembl:ENST00000330020) - c.1124A>C (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1584124455 | 378 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000007.14:g.64015898A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015898A>G Locations: - p.Glu378Gly (Ensembl:ENST00000330020) - c.1133A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs1789117704 | 378 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000007.14:g.64015897G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015897G>A Locations: - p.Glu378Lys (Ensembl:ENST00000330020) - c.1132G>A (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs759844675 | 381 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.619) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000007.14:g.64015907A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015907A>G Locations: - p.Tyr381Cys (Ensembl:ENST00000330020) - c.1142A>G (Ensembl:ENST00000330020) Source type: large scale study Cross-references: | |||||||
rs2116208746 | 383 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000007.14:g.64015912A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 7q11.21 Genomic location: NC_000007.14:g.64015912A>T Locations: - p.Ser383Cys (Ensembl:ENST00000330020) - c.1147A>T (Ensembl:ENST00000330020) Source type: large scale study Cross-references: |