F8WBW9 · F8WBW9_HUMAN
- Proteincatechol O-methyltransferase
- GeneCOMT
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids199 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs551312068 | 2 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000022.11:g.19962531C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962531C>T Locations: - p.Pro2Leu (Ensembl:ENST00000207636) - c.5C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs551312068 | 2 | P>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000022.11:g.19962531C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962531C>G Locations: - p.Pro2Arg (Ensembl:ENST00000207636) - c.5C>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs759181324 | 3 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.19962533G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962533G>A Locations: - p.Glu3Lys (Ensembl:ENST00000207636) - c.7G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1164904803 | 3 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.19962534A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962534A>T Locations: - p.Glu3Val (Ensembl:ENST00000207636) - c.8A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
RCV001028893 rs1160435070 | 5 | P>L | Drug response (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000022.11:g.19962540C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962540C>T Locations: - p.Pro5Leu (Ensembl:ENST00000207636) - c.14C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
RCV001028891 rs1601526877 | 6 | P>L | Drug response (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.19962543C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962543C>T Locations: - p.Pro6Leu (Ensembl:ENST00000207636) - c.17C>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs753302283 | 7 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962546T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962546T>C Locations: - p.Leu7Pro (Ensembl:ENST00000207636) - c.20T>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs753302283 | 7 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962546T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962546T>G Locations: - p.Leu7Arg (Ensembl:ENST00000207636) - c.20T>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1942217599 | 8 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962549T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962549T>G Locations: - p.Leu8Arg (Ensembl:ENST00000207636) - c.23T>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1457049406 | 10 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000022.11:g.19962555C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962555C>T Locations: - p.Ala10Val (Ensembl:ENST00000207636) - c.29C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1360629147 | 11 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.19962557G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962557G>A Locations: - p.Ala11Thr (Ensembl:ENST00000207636) - c.31G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1415216107 | 12 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.235) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19962560G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962560G>A Locations: - p.Val12Met (Ensembl:ENST00000207636) - c.34G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs764392202 | 13 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.157) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000022.11:g.19962565G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962565G>C Locations: - p.Leu13Phe (Ensembl:ENST00000207636) - c.39G>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1942218305 | 15 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: tolerated (0.81) Somatic: No Accession: NC_000022.11:g.19962570G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962570G>C Locations: - p.Gly15Ala (Ensembl:ENST00000207636) - c.44G>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942218377 | 16 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19962573T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962573T>C Locations: - p.Leu16Pro (Ensembl:ENST00000207636) - c.47T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1439513393 | 18 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962579T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962579T>A Locations: - p.Leu18Gln (Ensembl:ENST00000207636) - c.53T>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs757427295 | 20 | V>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.157) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.19962585T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962585T>A Locations: - p.Val20Glu (Ensembl:ENST00000207636) - c.59T>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
COSV52889551 rs559479480 | 20 | V>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: Yes Accession: NC_000022.11:g.19962584G>C, NC_000022.11:g.19962584G>T Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962584G>C, NC_000022.11:g.19962584G>T Locations: - p.Val20Leu (Ensembl:ENST00000207636) - c.58G>C (Ensembl:ENST00000207636) - c.58G>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs559479480 | 20 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000022.11:g.19962584G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962584G>A Locations: - p.Val20Met (Ensembl:ENST00000207636) - c.58G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs781461677 | 21 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.631) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000022.11:g.19962587G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962587G>C Locations: - p.Val21Leu (Ensembl:ENST00000207636) - c.61G>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs781461677 | 21 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.19962587G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962587G>A Locations: - p.Val21Met (Ensembl:ENST00000207636) - c.61G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs970645223 | 23 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962594T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962594T>A Locations: - p.Leu23Gln (Ensembl:ENST00000207636) - c.68T>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1209323936 | 23 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000022.11:g.19962593C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962593C>G Locations: - p.Leu23Val (Ensembl:ENST00000207636) - c.67C>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1203339655 | 24 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.235) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.19962596C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962596C>A Locations: - p.Leu24Met (Ensembl:ENST00000207636) - c.70C>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs750490382 | 25 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000022.11:g.19962599C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962599C>T Locations: - p.Leu25Phe (Ensembl:ENST00000207636) - c.73C>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1942219980 | 26 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000022.11:g.19962603T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962603T>G Locations: - p.Leu26Arg (Ensembl:ENST00000207636) - c.77T>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1278178766 | 29 | W>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000022.11:g.19962612G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962612G>C Locations: - p.Trp29Ser (Ensembl:ENST00000207636) - c.86G>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1363253427 | 30 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000022.11:g.19962615G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962615G>C Locations: - p.Gly30Ala (Ensembl:ENST00000207636) - c.89G>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs139227383 | 30 | G>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000022.11:g.19962614G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962614G>A Locations: - p.Gly30Ser (Ensembl:ENST00000207636) - c.88G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs931653147 | 31 | W>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19962619G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962619G>A Locations: - p.Trp31Ter (Ensembl:ENST00000207636) - c.93G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs748066830 | 32 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962621G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962621G>A Locations: - p.Gly32Asp (Ensembl:ENST00000207636) - c.95G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs138628382 | 32 | G>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.523) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19962620G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962620G>C Locations: - p.Gly32Arg (Ensembl:ENST00000207636) - c.94G>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs138628382 | 32 | G>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.19962620G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962620G>A Locations: - p.Gly32Ser (Ensembl:ENST00000207636) - c.94G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942220905 | 33 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962624T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962624T>C Locations: - p.Leu33Pro (Ensembl:ENST00000207636) - c.98T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
VAR_013925 rs6270 | 34 | C>S | UniProt Ensembl dbSNP | ||||
Consequence: missense Somatic: No Accession: NC_000022.11:g.19962627G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962627G>C Locations: - p.Cys34Ser (UniProt:P21964) - p.Cys34Ser (Ensembl:ENST00000207636) - c.101G>C (Ensembl:ENST00000207636) Source type: mixed | |||||||
rs771850671 | 35 | L>F | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000022.11:g.19962629C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962629C>T Locations: - p.Leu35Phe (Ensembl:ENST00000207636) - c.103C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs777441922 | 36 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000022.11:g.19962632A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962632A>C Locations: - p.Ile36Leu (Ensembl:ENST00000207636) - c.106A>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs770700364 | 37 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.464) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000022.11:g.19962635G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962635G>C Locations: - p.Gly37Arg (Ensembl:ENST00000207636) - c.109G>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs770700364 | 37 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000022.11:g.19962635G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962635G>A Locations: - p.Gly37Ser (Ensembl:ENST00000207636) - c.109G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs759091417 | 38 | W>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19962639G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962639G>A Locations: - p.Trp38Ter (Ensembl:ENST00000207636) - c.113G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
COSV52889045 rs75012854 | 39 | N>D | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.188) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000022.11:g.19962641A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962641A>G Locations: - p.Asn39Asp (Ensembl:ENST00000207636) - c.115A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs74745580 | 39 | N>K | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.247) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.19962643C>A, NC_000022.11:g.19962643C>G Codon: AAC/AAA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962643C>A, NC_000022.11:g.19962643C>G Locations: - p.Asn39Lys (Ensembl:ENST00000207636) - c.117C>A (Ensembl:ENST00000207636) - c.117C>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs776094728 | 39 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.19962642A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962642A>G Locations: - p.Asn39Ser (Ensembl:ENST00000207636) - c.116A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942222178 | 40 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19962645A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962645A>G Locations: - p.Glu40Gly (Ensembl:ENST00000207636) - c.119A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs984098043 | 40 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.745) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000004246 (gnomAD) Accession: NC_000022.11:g.19962644G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962644G>A Locations: - p.E40K (NCI-TCGA:ENST00000207636) - p.Glu40Lys (Ensembl:ENST00000207636) - c.118G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs984098043 | 40 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.378) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962644G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962644G>C Locations: - p.Glu40Gln (Ensembl:ENST00000207636) - c.118G>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs2146165010 | 42 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000022.11:g.19962650A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962650A>G Locations: - p.Ile42Val (Ensembl:ENST00000207636) - c.124A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1261617944 | 43 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.9) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19962654T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962654T>C Locations: - p.Leu43Pro (Ensembl:ENST00000207636) - c.128T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs762297267 | 46 | I>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.665) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962663T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962663T>A Locations: - p.Ile46Asn (Ensembl:ENST00000207636) - c.137T>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs762297267 | 46 | I>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962663T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962663T>G Locations: - p.Ile46Ser (Ensembl:ENST00000207636) - c.137T>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942222499 | 49 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.19962671C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962671C>G Locations: - p.Leu49Val (Ensembl:ENST00000207636) - c.145C>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs2146165053 | 50 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000022.11:g.19962674C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962674C>T Locations: - p.Leu50Phe (Ensembl:ENST00000207636) - c.148C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs569294134 | 51 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.19962678T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962678T>C Locations: - p.Met51Thr (Ensembl:ENST00000207636) - c.152T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
COSV108025530 rs1942222832 | 52 | G>D | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000022.11:g.19962681G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962681G>A Locations: - p.Gly52Asp (Ensembl:ENST00000207636) - c.155G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1179632437 | 54 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.427) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962686A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962686A>G Locations: - p.Thr54Ala (Ensembl:ENST00000207636) - c.160A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942223079 | 54 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.19962687C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962687C>G Locations: - p.Thr54Ser (Ensembl:ENST00000207636) - c.161C>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs2146165115 | 55 | K>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962690A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962690A>T Locations: - p.Lys55Met (Ensembl:ENST00000207636) - c.164A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1243773629 | 56 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19962692G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962692G>A Locations: - p.Glu56Lys (Ensembl:ENST00000207636) - c.166G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs756145905 | 57 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19962695C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962695C>T Locations: - p.Gln57Ter (Ensembl:ENST00000207636) - c.169C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs756145905 | 57 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.283) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.19962695C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962695C>A Locations: - p.Gln57Lys (Ensembl:ENST00000207636) - c.169C>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs2146165136 | 57 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.19962696A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962696A>G Locations: - p.Gln57Arg (Ensembl:ENST00000207636) - c.170A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
COSV52889010 rs1480698560 | 58 | R>C | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.19962698C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962698C>T Locations: - p.Arg58Cys (Ensembl:ENST00000207636) - c.172C>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs766469681 | 58 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962699G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962699G>A Locations: - p.Arg58His (Ensembl:ENST00000207636) - c.173G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1466865313 | 59 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962702T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962702T>C Locations: - p.Ile59Thr (Ensembl:ENST00000207636) - c.176T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs752620960 | 59 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.392) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.19962701A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962701A>G Locations: - p.Ile59Val (Ensembl:ENST00000207636) - c.175A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942223864 | 62 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000022.11:g.19962710C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962710C>T Locations: - p.His62Tyr (Ensembl:ENST00000207636) - c.184C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs746764639 | 63 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19962714T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962714T>C Locations: - p.Val63Ala (Ensembl:ENST00000207636) - c.188T>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1326159112 | 63 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19962713G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962713G>A Locations: - p.Val63Met (Ensembl:ENST00000207636) - c.187G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs774277271 | 65 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000022.11:g.19962720A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962720A>G Locations: - p.Gln65Arg (Ensembl:ENST00000207636) - c.194A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1281791095 | 66 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.19962723A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962723A>G Locations: - p.His66Arg (Ensembl:ENST00000207636) - c.197A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1404830108 | 66 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962722C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962722C>T Locations: - p.His66Tyr (Ensembl:ENST00000207636) - c.196C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1464634867 | 67 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962725G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962725G>A Locations: - p.Ala67Thr (Ensembl:ENST00000207636) - c.199G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
COSV99258369 rs757163626 | 67 | A>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.19962726C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962726C>T Locations: - p.Ala67Val (Ensembl:ENST00000207636) - c.200C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1250960319 | 68 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000022.11:g.19962728G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962728G>A Locations: - p.Glu68Lys (Ensembl:ENST00000207636) - c.202G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs2146165272 | 69 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000022.11:g.19962732C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962732C>T Locations: - p.Pro69Leu (Ensembl:ENST00000207636) - c.206C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs149909767 | 70 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962734G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962734G>A Locations: - p.Gly70Arg (Ensembl:ENST00000207636) - c.208G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs149909767 | 70 | G>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962734G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962734G>T Locations: - p.Gly70Trp (Ensembl:ENST00000207636) - c.208G>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
VAR_013926 CA127289 COSV52889836 RCV000019157 RCV001028887 rs6267 | 72 | A>S | correlated with reduced enzyme activity; associated with increased risk for schizophrenia (UniProt) Schizophrenia, susceptibility to (ClinVar) | Benign (UniProt) | UniProt ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.01338 (ClinVar) Accession: NC_000022.11:g.19962740G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962740G>T Locations: - p.Ala72Ser (UniProt:P21964) - p.Ala72Ser (Ensembl:ENST00000207636) - c.214G>T (Ensembl:ENST00000207636) Disease association: - Schizophrenia, susceptibility to Source type: mixed | |||||||
rs6267 | 72 | A>T | Risk factor (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.463) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962740G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962740G>A Locations: - p.Ala72Thr (Ensembl:ENST00000207636) - c.214G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1266592118 | 73 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19962743C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962743C>T Locations: - p.Gln73Ter (Ensembl:ENST00000207636) - c.217C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1364013811 | 73 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000022.11:g.19962744A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962744A>G Locations: - p.Gln73Arg (Ensembl:ENST00000207636) - c.218A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs773373201 | 75 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19962750T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962750T>C Locations: - p.Val75Ala (Ensembl:ENST00000207636) - c.224T>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs999200429 | 75 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962749G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962749G>C Locations: - p.Val75Leu (Ensembl:ENST00000207636) - c.223G>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs999200429 | 75 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962749G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962749G>A Locations: - p.Val75Met (Ensembl:ENST00000207636) - c.223G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs760899191 | 76 | L>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962753T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962753T>A Locations: - p.Leu76Gln (Ensembl:ENST00000207636) - c.227T>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942226252 | 77 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.19962756A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962756A>G Locations: - p.Glu77Gly (Ensembl:ENST00000207636) - c.230A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942226188 | 77 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000022.11:g.19962755G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962755G>A Locations: - p.Glu77Lys (Ensembl:ENST00000207636) - c.229G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1164520603 | 78 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000022.11:g.19962758G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962758G>A Locations: - p.Ala78Thr (Ensembl:ENST00000207636) - c.232G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs753856814 | 79 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962762T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962762T>C Locations: - p.Ile79Thr (Ensembl:ENST00000207636) - c.236T>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs766377984 | 79 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.418) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000022.11:g.19962761A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962761A>G Locations: - p.Ile79Val (Ensembl:ENST00000207636) - c.235A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942226648 | 81 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000022.11:g.19962767A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962767A>T Locations: - p.Thr81Ser (Ensembl:ENST00000207636) - c.241A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942226826 | 82 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962770T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962770T>C Locations: - p.Tyr82His (Ensembl:ENST00000207636) - c.244T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs148620887 | 83 | C>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962773T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962773T>C Locations: - p.Cys83Arg (Ensembl:ENST00000207636) - c.247T>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs199690157 | 84 | E>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19962776G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962776G>T Locations: - p.Glu84Ter (Ensembl:ENST00000207636) - c.250G>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
COSV52889265 rs199690157 | 84 | E>K | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.35) Somatic: Yes Accession: NC_000022.11:g.19962776G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962776G>A Locations: - p.Glu84Lys (Ensembl:ENST00000207636) - c.250G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1324928849 | 85 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19962780A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962780A>C Locations: - p.Gln85Pro (Ensembl:ENST00000207636) - c.254A>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
COSV107226362 rs1221732999 | 88 | W>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.19962790G>A Codon: TGG/TGA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962790G>A Locations: - p.Trp88Ter (Ensembl:ENST00000207636) - c.264G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
RCV001028883 rs373611092 | 90 | M>L | Drug response (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.19962794A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962794A>T Locations: - p.Met90Leu (Ensembl:ENST00000207636) - c.268A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1255952971 | 90 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962795T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962795T>C Locations: - p.Met90Thr (Ensembl:ENST00000207636) - c.269T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs373611092 | 90 | M>V | Drug response (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19962794A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962794A>G Locations: - p.Met90Val (Ensembl:ENST00000207636) - c.268A>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs774847933 | 91 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962797A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962797A>G Locations: - p.Asn91Asp (Ensembl:ENST00000207636) - c.271A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs2146165564 | 91 | N>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962798A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962798A>T Locations: - p.Asn91Ile (Ensembl:ENST00000207636) - c.272A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs755825980 | 91 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962799C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962799C>G Locations: - p.Asn91Lys (Ensembl:ENST00000207636) - c.273C>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs13306281 | 92 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962800G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962800G>A Locations: - p.Val92Met (Ensembl:ENST00000207636) - c.274G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1942228439 | 94 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000022.11:g.19962808C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962808C>G Locations: - p.Asp94Glu (Ensembl:ENST00000207636) - c.282C>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs528311784 | 94 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962807A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962807A>G Locations: - p.Asp94Gly (Ensembl:ENST00000207636) - c.281A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
COSV52890901 rs76452330 | 94 | D>N | Drug response (Ensembl) | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000022.11:g.19962806G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962806G>A Locations: - p.Asp94Asn (Ensembl:ENST00000207636) - c.280G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
RCV001028882 rs76452330 | 94 | D>Y | Drug response (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000022.11:g.19962806G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962806G>T Locations: - p.Asp94Tyr (Ensembl:ENST00000207636) - c.280G>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1443470530 | 95 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.19962809A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962809A>G Locations: - p.Lys95Glu (Ensembl:ENST00000207636) - c.283A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1443470530 | 95 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.19962809A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962809A>C Locations: - p.Lys95Gln (Ensembl:ENST00000207636) - c.283A>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1601527545 | 96 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19962812A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19962812A>G Locations: - p.Lys96Glu (Ensembl:ENST00000207636) - c.286A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1173091650 | 97 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963566G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963566G>A Locations: - p.Gly97Asp (Ensembl:ENST00000207636) - c.290G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1462976371 | 98 | K>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19963568A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963568A>T Locations: - p.Lys98Ter (Ensembl:ENST00000207636) - c.292A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs750428117 | 99 | I>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.593) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19963571A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963571A>T Locations: - p.Ile99Phe (Ensembl:ENST00000207636) - c.295A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs760348397 | 99 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963573C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963573C>G Locations: - p.Ile99Met (Ensembl:ENST00000207636) - c.297C>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs753372657 | 100 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963575T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963575T>C Locations: - p.Val100Ala (Ensembl:ENST00000207636) - c.299T>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs61910731 | 100 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.19963574G>C, NC_000022.11:g.19963574G>T Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963574G>C, NC_000022.11:g.19963574G>T Locations: - p.Val100Leu (Ensembl:ENST00000207636) - c.298G>C (Ensembl:ENST00000207636) - c.298G>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs61910731 | 100 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000022.11:g.19963574G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963574G>A Locations: - p.Val100Met (Ensembl:ENST00000207636) - c.298G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1283686236 | 101 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963578A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963578A>G Locations: - p.Asp101Gly (Ensembl:ENST00000207636) - c.302A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
VAR_020274 RCV000901855 rs5031015 | 102 | A>T | Benign (Ensembl, ClinVar) | UniProt ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.002 (ClinVar) Accession: NC_000022.11:g.19963580G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963580G>A Locations: - p.Ala102Thr (UniProt:P21964) - p.Ala102Thr (Ensembl:ENST00000207636) - c.304G>A (Ensembl:ENST00000207636) Source type: mixed | |||||||
rs778219405 | 103 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000022.11:g.19963583G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963583G>C Locations: - p.Val103Leu (Ensembl:ENST00000207636) - c.307G>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
COSV104569336 rs778219405 | 103 | V>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000022.11:g.19963583G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963583G>A Locations: - p.Val103Met (Ensembl:ENST00000207636) - c.307G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs201922528 | 104 | I>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.19963586A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963586A>T Locations: - p.Ile104Phe (Ensembl:ENST00000207636) - c.310A>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1942255817 | 105 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000022.11:g.19963590A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963590A>G Locations: - p.Gln105Arg (Ensembl:ENST00000207636) - c.314A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs151117263 | 106 | E>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.342) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.19963594G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963594G>C Locations: - p.Glu106Asp (Ensembl:ENST00000207636) - c.318G>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
COSV104392736 rs200563082 | 106 | E>G | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.19963593A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963593A>G Locations: - p.Glu106Gly (Ensembl:ENST00000207636) - c.317A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1490987788 | 106 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.701) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.19963592G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963592G>A Locations: - p.Glu106Lys (Ensembl:ENST00000207636) - c.316G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs199637204 | 107 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000022.11:g.19963596A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963596A>G Locations: - p.His107Arg (Ensembl:ENST00000207636) - c.320A>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1188559680 | 108 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19963598C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963598C>T Locations: - p.Gln108Ter (Ensembl:ENST00000207636) - c.322C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs2146169248 | 109 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19963602C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963602C>A Locations: - p.Pro109His (Ensembl:ENST00000207636) - c.326C>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs566681525 | 111 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000022.11:g.19963607G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963607G>C Locations: - p.Val111Leu (Ensembl:ENST00000207636) - c.331G>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs566681525 | 111 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.19963607G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963607G>A Locations: - p.Val111Met (Ensembl:ENST00000207636) - c.331G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1168438991 | 113 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19963613C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963613C>G Locations: - p.Leu113Val (Ensembl:ENST00000207636) - c.337C>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs749349703 | 115 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963620T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963620T>C Locations: - p.Leu115Pro (Ensembl:ENST00000207636) - c.344T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs768889221 | 117 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.19963625G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963625G>T Locations: - p.Ala117Ser (Ensembl:ENST00000207636) - c.349G>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
RCV001029695 rs1601529201 | 117 | A>V | Drug response (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.486) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000022.11:g.19963626C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963626C>T Locations: - p.Ala117Val (Ensembl:ENST00000207636) - c.350C>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1364785401 | 118 | Y>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963629A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963629A>C Locations: - p.Tyr118Ser (Ensembl:ENST00000207636) - c.353A>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1174983685 | 120 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963635G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963635G>A Locations: - p.Gly120Asp (Ensembl:ENST00000207636) - c.359G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942257378 | 120 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963634G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963634G>A Locations: - p.Gly120Ser (Ensembl:ENST00000207636) - c.358G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs760676485 | 121 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19963639C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963639C>A Locations: - p.Tyr121Ter (Ensembl:ENST00000207636) - c.363C>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942257641 | 122 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963640T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963640T>C Locations: - p.Ser122Pro (Ensembl:ENST00000207636) - c.364T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs766020740 | 123 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004004 (gnomAD) Accession: NC_000022.11:g.19963644C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963644C>A Locations: - p.A123D (NCI-TCGA:ENST00000207636) - p.Ala123Asp (Ensembl:ENST00000207636) - c.368C>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1942257787 | 124 | V>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963647T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963647T>A Locations: - p.Val124Glu (Ensembl:ENST00000207636) - c.371T>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs199710929 | 125 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963649C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963649C>T Locations: - p.Arg125Cys (Ensembl:ENST00000207636) - c.373C>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs199710929 | 125 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963649C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963649C>G Locations: - p.Arg125Gly (Ensembl:ENST00000207636) - c.373C>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs759305975 | 125 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19963650G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963650G>A Locations: - p.Arg125His (Ensembl:ENST00000207636) - c.374G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1291664538 | 126 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.19963654G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963654G>A Locations: - p.Met126Ile (Ensembl:ENST00000207636) - c.378G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs764846399 | 128 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19963658C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963658C>T Locations: - p.Arg128Cys (Ensembl:ENST00000207636) - c.382C>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs752384128 | 128 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19963659G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963659G>A Locations: - p.Arg128His (Ensembl:ENST00000207636) - c.383G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs757861911 | 130 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963665T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963665T>C Locations: - p.Leu130Pro (Ensembl:ENST00000207636) - c.389T>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs757861911 | 130 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963665T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963665T>G Locations: - p.Leu130Arg (Ensembl:ENST00000207636) - c.389T>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1387220343 | 131 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.19963667T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963667T>C Locations: - p.Ser131Pro (Ensembl:ENST00000207636) - c.391T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1257420392 | 132 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.265) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000022.11:g.19963671C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963671C>T Locations: - p.Pro132Leu (Ensembl:ENST00000207636) - c.395C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs751999652 | 133 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000022.11:g.19963674G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963674G>A Locations: - p.Gly133Glu (Ensembl:ENST00000207636) - c.398G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942259370 | 134 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000022.11:g.19963676G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963676G>A Locations: - p.Ala134Thr (Ensembl:ENST00000207636) - c.400G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs757782035 | 134 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.257) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000008004 (gnomAD) Accession: NC_000022.11:g.19963677C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963677C>T Locations: - p.A134V (NCI-TCGA:ENST00000207636) - p.Ala134Val (Ensembl:ENST00000207636) - c.401C>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1387841271 | 135 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963679A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963679A>T Locations: - p.Arg135Trp (Ensembl:ENST00000207636) - c.403A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs746224273 | 136 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.27) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000022.11:g.19963682C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963682C>T Locations: - p.Leu136Phe (Ensembl:ENST00000207636) - c.406C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs746224273 | 136 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.491) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.19963682C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963682C>A Locations: - p.Leu136Ile (Ensembl:ENST00000207636) - c.406C>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1286744830 | 138 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963688A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963688A>C Locations: - p.Thr138Pro (Ensembl:ENST00000207636) - c.412A>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs141726378 | 139 | I>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.771) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000022.11:g.19963693C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963693C>G Locations: - p.Ile139Met (Ensembl:ENST00000207636) - c.417C>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs749544037 | 139 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.19963691A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963691A>G Locations: - p.Ile139Val (Ensembl:ENST00000207636) - c.415A>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs575273220 | 140 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963694G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963694G>A Locations: - p.Glu140Lys (Ensembl:ENST00000207636) - c.418G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
RCV000972987 rs150437940 | 141 | I>V | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.0006 (ClinVar) Accession: NC_000022.11:g.19963697A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963697A>G Locations: - p.Ile141Val (Ensembl:ENST00000207636) - c.421A>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1340949277 | 142 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000022.11:g.19963700A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963700A>G Locations: - p.Asn142Asp (Ensembl:ENST00000207636) - c.424A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1285468169 | 142 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.873) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963702C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963702C>A Locations: - p.Asn142Lys (Ensembl:ENST00000207636) - c.426C>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1569133686 | 142 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.19963701A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963701A>G Locations: - p.Asn142Ser (Ensembl:ENST00000207636) - c.425A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs145228139 | 143 | P>R | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19963704C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963704C>G Locations: - p.Pro143Arg (Ensembl:ENST00000207636) - c.428C>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs759340648 | 144 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000022.11:g.19963706G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963706G>A Locations: - p.Asp144Asn (Ensembl:ENST00000207636) - c.430G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs765045592 | 145 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.19963710G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963710G>A Locations: - p.Cys145Tyr (Ensembl:ENST00000207636) - c.434G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs4986871 | 146 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19963713C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963713C>G Locations: - p.Ala146Gly (Ensembl:ENST00000207636) - c.437C>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
VAR_020275 rs4986871 | 146 | A>V | UniProt TOPMed dbSNP | ||||
Consequence: missense Somatic: No Accession: NC_000022.11:g.19963713C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963713C>T Locations: - p.Ala146Val (UniProt:P21964) - p.Ala146Val (Ensembl:ENST00000207636) - c.437C>T (Ensembl:ENST00000207636) Source type: mixed | |||||||
COSV108025541 rs567862500 | 147 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000022.11:g.19963715G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963715G>A Locations: - p.Ala147Thr (Ensembl:ENST00000207636) - c.439G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs2047729050 | 149 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.688) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963722C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963722C>T Locations: - p.Thr149Ile (Ensembl:ENST00000207636) - c.446C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942261200 | 149 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19963721A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963721A>T Locations: - p.Thr149Ser (Ensembl:ENST00000207636) - c.445A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs188086045 | 150 | Q>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000022.11:g.19963724C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963724C>A Locations: - p.Gln150Lys (Ensembl:ENST00000207636) - c.448C>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs768039922 | 151 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.19963728G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963728G>A Locations: - p.Arg151Gln (Ensembl:ENST00000207636) - c.452G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs756769871 | 151 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963727C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963727C>T Locations: - p.Arg151Trp (Ensembl:ENST00000207636) - c.451C>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1452856813 | 152 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (1) Somatic: No Accession: NC_000022.11:g.19963732G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963732G>A Locations: - p.Met152Ile (Ensembl:ENST00000207636) - c.456G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1476479829 | 152 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000022.11:g.19963731T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963731T>C Locations: - p.Met152Thr (Ensembl:ENST00000207636) - c.455T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs756499908 | 156 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963742G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963742G>A Locations: - p.Ala156Thr (Ensembl:ENST00000207636) - c.466G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1445081098 | 157 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19963746G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963746G>C Locations: - p.Gly157Ala (Ensembl:ENST00000207636) - c.470G>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1445081098 | 157 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963746G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963746G>T Locations: - p.Gly157Val (Ensembl:ENST00000207636) - c.470G>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
VAR_005139 CA127287 COSV52889256 RCV000019156 RCV000244083 RCV001028880 RCV003633481 rs4680 | 158 | V>M | allele COMT*2; associated with low enzyme activity and thermolability; may increase the tendency to develop high blood pressure and abdominal obesity (UniProt) CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM (ClinVar) Schizophrenia (ClinVar) | Benign (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.36921 (ClinVar) Accession: NC_000022.11:g.19963748G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963748G>A Locations: - p.Val158Met (UniProt:P21964) - p.Val158Met (Ensembl:ENST00000207636) - c.472G>A (Ensembl:ENST00000207636) Disease association: - CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM - Schizophrenia (SCZD) Source type: mixed | |||||||
RCV001028879 rs1601529589 | 160 | D>E | Drug response (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.26) Somatic: Yes Accession: NC_000022.11:g.19963756C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963756C>G Locations: - p.Asp160Glu (Ensembl:ENST00000207636) - c.480C>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1050746597 | 160 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963754G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963754G>C Locations: - p.Asp160His (Ensembl:ENST00000207636) - c.478G>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1050746597 | 160 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000022.11:g.19963754G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963754G>A Locations: - p.Asp160Asn (Ensembl:ENST00000207636) - c.478G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1050746597 | 160 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19963754G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19963754G>T Locations: - p.Asp160Tyr (Ensembl:ENST00000207636) - c.478G>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs768474006 | 162 | V>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19964111T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964111T>A Locations: - p.Val162Glu (Ensembl:ENST00000207636) - c.485T>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs749053677 | 162 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.257) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19964110G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964110G>T Locations: - p.Val162Leu (Ensembl:ENST00000207636) - c.484G>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs749053677 | 162 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000022.11:g.19964110G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964110G>A Locations: - p.Val162Met (Ensembl:ENST00000207636) - c.484G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs774007307 | 163 | C>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000022.11:g.19964113T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964113T>G Locations: - p.Cys163Gly (Ensembl:ENST00000207636) - c.487T>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1387519472 | 164 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000022.11:g.19964117G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964117G>A Locations: - p.Arg164Lys (Ensembl:ENST00000207636) - c.491G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1387519472 | 164 | R>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000022.11:g.19964117G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964117G>T Locations: - p.Arg164Met (Ensembl:ENST00000207636) - c.491G>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs376721753 | 165 | D>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964119G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964119G>C Locations: - p.Asp165His (Ensembl:ENST00000207636) - c.493G>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs376721753 | 165 | D>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964119G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964119G>A Locations: - p.Asp165Asn (Ensembl:ENST00000207636) - c.493G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1483654105 | 166 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.19964123G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964123G>A Locations: - p.Gly166Asp (Ensembl:ENST00000207636) - c.497G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1285622155 | 169 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.19964132C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964132C>G Locations: - p.Ser169Cys (Ensembl:ENST00000207636) - c.506C>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1601530294 | 171 | R>K | Drug response (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000022.11:g.19964138G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964138G>A Locations: - p.Arg171Lys (Ensembl:ENST00000207636) - c.512G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1320403365 | 171 | R>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964137A>T Codon: AGG/TGG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964137A>T Locations: - p.Arg171Trp (Ensembl:ENST00000207636) - c.511A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs998358228 | 172 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964140A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964140A>G Locations: - p.Thr172Ala (Ensembl:ENST00000207636) - c.514A>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs371344497 | 172 | T>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964141C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964141C>T Locations: - p.Thr172Met (Ensembl:ENST00000207636) - c.515C>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs998358228 | 172 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000022.11:g.19964140A>T Codon: ACG/TCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964140A>T Locations: - p.Thr172Ser (Ensembl:ENST00000207636) - c.514A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs759939161 | 173 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19964145G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964145G>A Locations: - p.Trp173Ter (Ensembl:ENST00000207636) - c.519G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1053149857 | 173 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19964144G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964144G>A Locations: - p.Trp173Ter (Ensembl:ENST00000207636) - c.518G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs759939161 | 173 | W>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000022.11:g.19964145G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964145G>T Locations: - p.Trp173Cys (Ensembl:ENST00000207636) - c.519G>T (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs765538067 | 174 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000022.11:g.19964146G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964146G>C Locations: - p.Ala174Pro (Ensembl:ENST00000207636) - c.520G>C (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1601530351 | 174 | A>V | Drug response (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000022.11:g.19964147C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964147C>T Locations: - p.Ala174Val (Ensembl:ENST00000207636) - c.521C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942277265 | 175 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.19964149C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964149C>A Locations: - p.Leu175Met (Ensembl:ENST00000207636) - c.523C>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942277338 | 175 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964150T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964150T>C Locations: - p.Leu175Pro (Ensembl:ENST00000207636) - c.524T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1490738431 | 176 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000022.11:g.19964152A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964152A>T Locations: - p.Thr176Ser (Ensembl:ENST00000207636) - c.526A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1205397118 | 178 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.92) Somatic: No Accession: NC_000022.11:g.19964158G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964158G>A Locations: - p.Ala178Thr (Ensembl:ENST00000207636) - c.532G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942277722 | 178 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000022.11:g.19964159C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964159C>T Locations: - p.Ala178Val (Ensembl:ENST00000207636) - c.533C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942277882 | 179 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964162T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964162T>C Locations: - p.Val179Ala (Ensembl:ENST00000207636) - c.536T>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1260579240 | 179 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964161G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964161G>A Locations: - p.Val179Ile (Ensembl:ENST00000207636) - c.535G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942278158 | 180 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000022.11:g.19964165C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964165C>A Locations: - p.Pro180Gln (Ensembl:ENST00000207636) - c.539C>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs764440706 | 180 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000022.11:g.19964164C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964164C>T Locations: - p.Pro180Ser (Ensembl:ENST00000207636) - c.538C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs2146171738 | 181 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.19964168G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964168G>A Locations: - p.Gly181Asp (Ensembl:ENST00000207636) - c.542G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1410929509 | 186 | W>* | TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000022.11:g.19964184G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964184G>A Locations: - p.Trp186Ter (Ensembl:ENST00000207636) - c.558G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1410929509 | 186 | W>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000022.11:g.19964184G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964184G>C Locations: - p.Trp186Cys (Ensembl:ENST00000207636) - c.558G>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs751619226 | 187 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964185A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964185A>C Locations: - p.Ser187Arg (Ensembl:ENST00000207636) - c.559A>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs749246793 | 188 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.19964189T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964189T>G Locations: - p.Val188Gly (Ensembl:ENST00000207636) - c.563T>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs746938556 | 188 | V>I | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000022.11:g.19964188G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964188G>A Locations: - p.Val188Ile (Ensembl:ENST00000207636) - c.562G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1158306516 | 189 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000022.11:g.19964192C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964192C>G Locations: - p.Pro189Arg (Ensembl:ENST00000207636) - c.566C>G (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
COSV52889777 rs778579471 | 190 | G>E | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.19964195G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964195G>A Locations: - p.Gly190Glu (Ensembl:ENST00000207636) - c.569G>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs79048885 | 190 | G>R | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964194G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964194G>A Locations: - p.Gly190Arg (Ensembl:ENST00000207636) - c.568G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1601530433 | 191 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.19964197C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964197C>T Locations: - p.His191Tyr (Ensembl:ENST00000207636) - c.571C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs768611995 | 192 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000022.11:g.19964202T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964202T>A Locations: - p.His192Gln (Ensembl:ENST00000207636) - c.576T>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs145561434 | 193 | P>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000022.11:g.19964203C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964203C>G Locations: - p.Pro193Ala (Ensembl:ENST00000207636) - c.577C>G (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs138056183 | 193 | P>L | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000022.11:g.19964204C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964204C>T Locations: - p.Pro193Leu (Ensembl:ENST00000207636) - c.578C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs145561434 | 193 | P>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000022.11:g.19964203C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964203C>A Locations: - p.Pro193Thr (Ensembl:ENST00000207636) - c.577C>A (Ensembl:ENST00000207636) Source type: large scale study | |||||||
rs1942279656 | 194 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000022.11:g.19964206C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964206C>T Locations: - p.Pro194Ser (Ensembl:ENST00000207636) - c.580C>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1267720875 | 195 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000022.11:g.19964209G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964209G>T Locations: - p.Ala195Ser (Ensembl:ENST00000207636) - c.583G>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1321744375 | 196 | E>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.19964212G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964212G>T Locations: - p.Glu196Ter (Ensembl:ENST00000207636) - c.586G>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1044873425 | 197 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000022.11:g.19964217A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964217A>C Locations: - p.Glu197Asp (Ensembl:ENST00000207636) - c.591A>C (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs772965142 | 197 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000022.11:g.19964215G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964215G>A Locations: - p.Glu197Lys (Ensembl:ENST00000207636) - c.589G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs746487090 | 198 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Accession: NC_000022.11:g.19964218G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964218G>A Locations: - p.Glu198Lys (Ensembl:ENST00000207636) - c.592G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
RCV001579551 rs770596060 | 198 | E>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000022.11:g.19964219A>T Codon: AAG/TAG Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964219A>T Locations: - p.Glu198Val (Ensembl:ENST00000207636) - c.593A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942280232 | 199 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) Somatic: No Accession: NC_000022.11:g.19964221G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964221G>A Locations: - p.Val199Ile (Ensembl:ENST00000207636) - c.595G>A (Ensembl:ENST00000207636) Source type: large scale study Cross-references: | |||||||
rs1942280305 | 200 | *>C | TOPMed | ||||
Consequence: missense Somatic: No Accession: NC_000022.11:g.19964226A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 22q11.21 Genomic location: NC_000022.11:g.19964226A>T Locations: - p.Ter200CysextTer38 (Ensembl:ENST00000207636) - c.600A>T (Ensembl:ENST00000207636) Source type: large scale study Cross-references: |