D6RIS3 · D6RIS3_HUMAN
- ProteinChromosome 4 open reading frame 33
- GeneC4orf33
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1015462960 | 2 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102615A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102615A>G Locations: - p.Asp2Gly (Ensembl:ENST00000508622) - c.5A>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1222792850 | 2 | D>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.129102614G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102614G>C Locations: - p.Asp2His (Ensembl:ENST00000508622) - c.4G>C (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs768430009 | 6 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.129102627A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102627A>G Locations: - p.Glu6Gly (Ensembl:ENST00000508622) - c.17A>G (Ensembl:ENST00000508622) Source type: large scale study | |||||||
rs768430009 | 6 | E>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000004.12:g.129102627A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102627A>T Locations: - p.Glu6Val (Ensembl:ENST00000508622) - c.17A>T (Ensembl:ENST00000508622) Source type: large scale study | |||||||
rs1753390870 | 7 | H>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.27) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.129102630A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102630A>T Locations: - p.His7Leu (Ensembl:ENST00000508622) - c.20A>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
COSV55416815 rs781127601 | 8 | T>A | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000004.12:g.129102632A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102632A>G Locations: - p.Thr8Ala (Ensembl:ENST00000508622) - c.22A>G (Ensembl:ENST00000508622) Source type: large scale study | |||||||
rs1157706349 | 8 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.129102633C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102633C>T Locations: - p.Thr8Ile (Ensembl:ENST00000508622) - c.23C>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1467031732 | 10 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102639A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102639A>G Locations: - p.Asp10Gly (Ensembl:ENST00000508622) - c.29A>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1359187761 | 10 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.129102638G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102638G>C Locations: - p.Asp10His (Ensembl:ENST00000508622) - c.28G>C (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1359187761 | 10 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000004.12:g.129102638G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102638G>A Locations: - p.Asp10Asn (Ensembl:ENST00000508622) - c.28G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1339199406 | 11 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.27) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000004.12:g.129102642G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102642G>A Locations: - p.Gly11Asp (Ensembl:ENST00000508622) - c.32G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1298268564 | 15 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000004.12:g.129102654A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102654A>G Locations: - p.Lys15Arg (Ensembl:ENST00000508622) - c.44A>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1561088222 | 17 | E>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.129102659G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102659G>T Locations: - p.Glu17Ter (Ensembl:ENST00000508622) - c.49G>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs961501963 | 17 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.129102660A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102660A>G Locations: - p.Glu17Gly (Ensembl:ENST00000508622) - c.50A>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1561088222 | 17 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000004.12:g.129102659G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102659G>A Locations: - p.Glu17Lys (Ensembl:ENST00000508622) - c.49G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
COSV55415983 rs1753392143 | 18 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000004.12:g.129102662C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102662C>T Locations: - p.P18S (NCI-TCGA:ENST00000508622) - p.Pro18Ser (Ensembl:ENST00000508622) - c.52C>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs773318520 | 19 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000004.12:g.129102665G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102665G>A Locations: - p.Val19Ile (Ensembl:ENST00000508622) - c.55G>A (Ensembl:ENST00000508622) Source type: large scale study | |||||||
rs773318520 | 19 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.129102665G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102665G>T Locations: - p.Val19Leu (Ensembl:ENST00000508622) - c.55G>T (Ensembl:ENST00000508622) Source type: large scale study | |||||||
rs762481004 | 21 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000004.12:g.129102671A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102671A>C Locations: - p.Ile21Leu (Ensembl:ENST00000508622) - c.61A>C (Ensembl:ENST00000508622) Source type: large scale study | |||||||
rs772322458 | 21 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.463) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000004.12:g.129102673C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102673C>G Locations: - p.Ile21Met (Ensembl:ENST00000508622) - c.63C>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
COSV55416444 rs762481004 rs762481004,COSV55416444 | 21 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.43) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000004.12:g.129102671A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102671A>G Locations: - p.I21V (NCI-TCGA:ENST00000508622) - p.Ile21Val (Ensembl:ENST00000508622) - c.61A>G (Ensembl:ENST00000508622) Source type: large scale study | |||||||
rs770366026 | 22 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000004.12:g.129102676G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102676G>T Locations: - p.Arg22Ser (Ensembl:ENST00000508622) - c.66G>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1283686870 | 23 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102678T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102678T>G Locations: - p.Leu23Arg (Ensembl:ENST00000508622) - c.68T>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753393309 | 25 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000004.12:g.129102683C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102683C>G Locations: - p.Pro25Ala (Ensembl:ENST00000508622) - c.73C>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs773991588 | 27 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000004.12:g.129102691C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102691C>A Locations: - p.Asp27Glu (Ensembl:ENST00000508622) - c.81C>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1353032604 | 29 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.129102695G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102695G>A Locations: - p.Gly29Arg (Ensembl:ENST00000508622) - c.85G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
COSV99828900 rs1753393740 | 30 | V>M | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000004.12:g.129102698G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102698G>A Locations: - p.Val30Met (Ensembl:ENST00000508622) - c.88G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs2125800735 | 31 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000004.12:g.129102701A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102701A>G Locations: - p.Met31Val (Ensembl:ENST00000508622) - c.91A>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
COSV99829041 rs2125800737 | 32 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000004.12:g.129102706G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102706G>A Locations: - p.M32I (NCI-TCGA:ENST00000508622) - p.Met32Ile (Ensembl:ENST00000508622) - c.96G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753393929 | 32 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102705T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102705T>C Locations: - p.Met32Thr (Ensembl:ENST00000508622) - c.95T>C (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs759109354 | 34 | I>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102710A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102710A>T Locations: - p.Ile34Phe (Ensembl:ENST00000508622) - c.100A>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753394228 | 34 | I>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102711T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102711T>G Locations: - p.Ile34Ser (Ensembl:ENST00000508622) - c.101T>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs767216654 | 35 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000004.12:g.129102713A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102713A>G Locations: - p.Ser35Gly (Ensembl:ENST00000508622) - c.103A>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs753040058 | 37 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.129102719C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102719C>A Locations: - p.Pro37Thr (Ensembl:ENST00000508622) - c.109C>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1580009470 | 39 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102726T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102726T>C Locations: - p.Phe39Ser (Ensembl:ENST00000508622) - c.116T>C (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1157292206 | 40 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102728A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102728A>G Locations: - p.Arg40Gly (Ensembl:ENST00000508622) - c.118A>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
VAR_033334 COSV55415790 rs35199409 | 40 | R>M | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000004.12:g.129102729G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102729G>T Locations: - p.Arg40Met (UniProt:Q8N1A6) - p.Arg40Met (Ensembl:ENST00000508622) - c.119G>T (Ensembl:ENST00000508622) Source type: mixed | |||||||
rs2125800767 | 40 | R>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.129102730G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102730G>T Locations: - p.Arg40Ser (Ensembl:ENST00000508622) - c.120G>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs2125800771 | 41 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.129102733T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102733T>A Locations: - p.Asp41Glu (Ensembl:ENST00000508622) - c.123T>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1434382104 | 41 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.129102731G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102731G>A Locations: - p.Asp41Asn (Ensembl:ENST00000508622) - c.121G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753395601 | 42 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102735C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102735C>T Locations: - p.Pro42Leu (Ensembl:ENST00000508622) - c.125C>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
COSV55416758 rs558336897 | 44 | A>S | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000004.12:g.129102740G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102740G>T Locations: - p.Ala44Ser (Ensembl:ENST00000508622) - c.130G>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1469654408 | 45 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.129102744C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102744C>T Locations: - p.Pro45Leu (Ensembl:ENST00000508622) - c.134C>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1404501608 | 45 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.129102743C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102743C>T Locations: - p.Pro45Ser (Ensembl:ENST00000508622) - c.133C>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs754364037 | 46 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000004.12:g.129102747T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102747T>C Locations: - p.Leu46Pro (Ensembl:ENST00000508622) - c.137T>C (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1561088367 | 46 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000004.12:g.129102746C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102746C>G Locations: - p.Leu46Val (Ensembl:ENST00000508622) - c.136C>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753396436 | 47 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.129102749G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102749G>A Locations: - p.Gly47Arg (Ensembl:ENST00000508622) - c.139G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs757303104 | 48 | E>* | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000004.12:g.129102752G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102752G>T Locations: - p.Glu48Ter (Ensembl:ENST00000508622) - c.142G>T (Ensembl:ENST00000508622) Source type: large scale study | |||||||
COSV55415718 rs757303104 | 48 | E>K | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.531) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000004.12:g.129102752G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102752G>A Locations: - p.Glu48Lys (Ensembl:ENST00000508622) - c.142G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs922512218 | 49 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.129102756C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102756C>T Locations: - p.Pro49Leu (Ensembl:ENST00000508622) - c.146C>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753396697 | 49 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.129102755C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102755C>T Locations: - p.Pro49Ser (Ensembl:ENST00000508622) - c.145C>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753396697 | 49 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000004.12:g.129102755C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102755C>A Locations: - p.Pro49Thr (Ensembl:ENST00000508622) - c.145C>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs2125800801 | 51 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000004.12:g.129102762A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102762A>G Locations: - p.Lys51Arg (Ensembl:ENST00000508622) - c.152A>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs778861735 | 52 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102765C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102765C>A Locations: - p.Pro52His (Ensembl:ENST00000508622) - c.155C>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753397295 | 53 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000004.12:g.129102767T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102767T>C Locations: - p.Phe53Leu (Ensembl:ENST00000508622) - c.157T>C (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753397412 | 53 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102768T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102768T>C Locations: - p.Phe53Ser (Ensembl:ENST00000508622) - c.158T>C (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1225428818 | 54 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000004.12:g.129102771A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102771A>G Locations: - p.Asn54Ser (Ensembl:ENST00000508622) - c.161A>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1281348714 | 55 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000004.12:g.129102773G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102773G>A Locations: - p.Glu55Lys (Ensembl:ENST00000508622) - c.163G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753397825 | 56 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102777T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102777T>C Locations: - p.Leu56Pro (Ensembl:ENST00000508622) - c.167T>C (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs200102664 | 57 | W>C | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.129102781G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102781G>T Locations: - p.Trp57Cys (Ensembl:ENST00000508622) - c.171G>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1219114228 | 60 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000004.12:g.129102789A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102789A>G Locations: - p.Glu60Gly (Ensembl:ENST00000508622) - c.179A>G (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
COSV55415345 rs1753398138 | 60 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000004.12:g.129102788G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102788G>A Locations: - p.E60K (NCI-TCGA:ENST00000508622) - p.Glu60Lys (Ensembl:ENST00000508622) - c.178G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs765829874 | 61 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.762) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.129106587T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129106587T>C Locations: - p.Val61Ala (Ensembl:ENST00000508622) - c.182T>C (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1753398415 | 61 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.129102791G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129102791G>A Locations: - p.Val61Ile (Ensembl:ENST00000508622) - c.181G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1561090222 | 62 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.129106589G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129106589G>T Locations: - p.Val62Leu (Ensembl:ENST00000508622) - c.184G>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs1561090222 | 62 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000004.12:g.129106589G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129106589G>A Locations: - p.Val62Met (Ensembl:ENST00000508622) - c.184G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs150207764 | 63 | E>D | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000004.12:g.129106594A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129106594A>T Locations: - p.Glu63Asp (Ensembl:ENST00000508622) - c.189A>T (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs758542700 | 64 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.623) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000004.12:g.129106595G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129106595G>T Locations: - p.Ala64Ser (Ensembl:ENST00000508622) - c.190G>T (Ensembl:ENST00000508622) Source type: large scale study | |||||||
COSV55417005 rs758542700 | 64 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000004.12:g.129106595G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129106595G>A Locations: - p.Ala64Thr (Ensembl:ENST00000508622) - c.190G>A (Ensembl:ENST00000508622) Source type: large scale study Cross-references: | |||||||
rs751849665 | 64 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.623) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000004.12:g.129106596C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 4q28.2 Genomic location: NC_000004.12:g.129106596C>T Locations: - p.Ala64Val (Ensembl:ENST00000508622) - c.191C>T (Ensembl:ENST00000508622) Source type: large scale study |