A0A494C1H3 · A0A494C1H3_HUMAN
- ProteinChimerin 1
- GeneCHN1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1203464894 | 2 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.175004909C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175004909C>G Locations: - p.Ala2Pro (Ensembl:ENST00000651971) - c.4G>C (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1203464894 | 2 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.175004909C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175004909C>T Locations: - p.Ala2Thr (Ensembl:ENST00000651971) - c.4G>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1435503499 | 3 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.175004905A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175004905A>G Locations: - p.Leu3Pro (Ensembl:ENST00000651971) - c.8T>C (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs755734334 | 3 | L>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.175004906G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175004906G>C Locations: - p.Leu3Val (Ensembl:ENST00000651971) - c.7C>G (Ensembl:ENST00000651971) Source type: large scale study | |||||||
rs1692013233 | 4 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000002.12:g.175004903T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175004903T>C Locations: - p.Thr4Ala (Ensembl:ENST00000651971) - c.10A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1692012892 | 5 | L>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.175004899A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175004899A>T Locations: - p.Leu5Gln (Ensembl:ENST00000651971) - c.14T>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs893865277 | 5 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000002.12:g.175004900G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175004900G>C Locations: - p.Leu5Val (Ensembl:ENST00000651971) - c.13C>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1236327283 | 6 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.175004895A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175004895A>C Locations: - p.Phe6Leu (Ensembl:ENST00000651971) - c.18T>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1391167366 | 6 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.175004896A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175004896A>G Locations: - p.Phe6Ser (Ensembl:ENST00000651971) - c.17T>C (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1371214600 | 7 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000002.12:g.174952202T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952202T>C Locations: - p.Asp7Gly (Ensembl:ENST00000651971) - c.20A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1054696380 | 7 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000002.12:g.175004894C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.175004894C>T Locations: - p.Asp7Asn (Ensembl:ENST00000651971) - c.19G>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1690044252 | 8 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.71) Somatic: No Accession: NC_000002.12:g.174952200T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952200T>C Locations: - p.Thr8Ala (Ensembl:ENST00000651971) - c.22A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1690044157 | 8 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000002.12:g.174952199G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952199G>A Locations: - p.Thr8Ile (Ensembl:ENST00000651971) - c.23C>T (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1290460290 | 9 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.174952196T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952196T>C Locations: - p.Asp9Gly (Ensembl:ENST00000651971) - c.26A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs2105413140 | 9 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.174952197C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952197C>T Locations: - p.Asp9Asn (Ensembl:ENST00000651971) - c.25G>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs777021876 | 10 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174952192T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952192T>A Locations: - p.Glu10Asp (Ensembl:ENST00000651971) - c.30A>T (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs762075755 | 10 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174952194C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952194C>G Locations: - p.Glu10Gln (Ensembl:ENST00000651971) - c.28G>C (Ensembl:ENST00000651971) Source type: large scale study | |||||||
rs767352096 | 11 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174952190T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952190T>C Locations: - p.Tyr11Cys (Ensembl:ENST00000651971) - c.32A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
COSV69298736 rs759415648 | 12 | R>T | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.15) Somatic: Yes Accession: NC_000002.12:g.174952187C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952187C>G Locations: - p.Arg12Thr (Ensembl:ENST00000651971) - c.35G>C (Ensembl:ENST00000651971) Source type: large scale study | |||||||
rs1690043636 | 13 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174952185G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952185G>A Locations: - p.Pro13Ser (Ensembl:ENST00000651971) - c.37C>T (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1690043636 | 13 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174952185G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952185G>T Locations: - p.Pro13Thr (Ensembl:ENST00000651971) - c.37C>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs774260020 | 15 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000002.12:g.174952179C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952179C>T Locations: - p.Val15Ile (Ensembl:ENST00000651971) - c.43G>A (Ensembl:ENST00000651971) Source type: large scale study | |||||||
rs867270931 | 16 | W>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174952174C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952174C>A Locations: - p.Trp16Cys (Ensembl:ENST00000651971) - c.48G>T (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1690043249 | 18 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174952169G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952169G>A Locations: - p.Ser18Phe (Ensembl:ENST00000651971) - c.53C>T (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1690043154 | 20 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174952164A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174952164A>G Locations: - p.Cys20Arg (Ensembl:ENST00000651971) - c.58T>C (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1281379412 | 21 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174918562C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174918562C>T Locations: - p.Gly21Glu (Ensembl:ENST00000651971) - c.62G>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1688916184 | 21 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174918563C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174918563C>T Locations: - p.Gly21Arg (Ensembl:ENST00000651971) - c.61G>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1292363262 | 23 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.174918557G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174918557G>A Locations: - p.Gln23Ter (Ensembl:ENST00000651971) - c.67C>T (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1349330974 | 24 | T>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174918553G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174918553G>C Locations: - p.Thr24Ser (Ensembl:ENST00000651971) - c.71C>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1040715571 | 25 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000002.12:g.174918551T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174918551T>C Locations: - p.Lys25Glu (Ensembl:ENST00000651971) - c.73A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1229908731 | 29 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174918538T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174918538T>C Locations: - p.Lys29Arg (Ensembl:ENST00000651971) - c.86A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs766993430 | 30 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174918534T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174918534T>G Locations: - p.Arg30Ser (Ensembl:ENST00000651971) - c.90A>C (Ensembl:ENST00000651971) Source type: large scale study | |||||||
rs1403806348 | 31 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174915171C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915171C>T Locations: - p.Val31Ile (Ensembl:ENST00000651971) - c.91G>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1688810917 | 33 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174915165A>T Codon: CAT/CAA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915165A>T Locations: - p.Trp33Arg (Ensembl:ENST00000651971) - c.97T>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1164174242 | 34 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000002.12:g.174915161T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915161T>C Locations: - p.His34Arg (Ensembl:ENST00000651971) - c.101A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs765089532 | 36 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000002.12:g.174915156G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915156G>T Locations: - p.Leu36Ile (Ensembl:ENST00000651971) - c.106C>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs774833153 | 37 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.174915153G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915153G>A Locations: - p.Gln37Ter (Ensembl:ENST00000651971) - c.109C>T (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
COSV69296892 rs948708778 | 38 | R>K | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000002.12:g.174915149C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915149C>T Locations: - p.Arg38Lys (Ensembl:ENST00000651971) - c.113G>A (Ensembl:ENST00000651971) Source type: large scale study | |||||||
rs887791897 | 39 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000002.12:g.174915147T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915147T>C Locations: - p.Ser39Gly (Ensembl:ENST00000651971) - c.115A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs771446302 | 41 | R>* | Duane retraction syndrome 2 (durs2) (Ensembl) | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.174915141G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915141G>A Locations: - p.Arg41Ter (Ensembl:ENST00000651971) - c.121C>T (Ensembl:ENST00000651971) Source type: large scale study | |||||||
rs771446302 | 41 | R>G | Duane retraction syndrome 2 (durs2) (Ensembl) | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174915141G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915141G>C Locations: - p.Arg41Gly (Ensembl:ENST00000651971) - c.121C>G (Ensembl:ENST00000651971) Source type: large scale study | |||||||
rs557351535 | 41 | R>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.174915140C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915140C>A Locations: - p.Arg41Leu (Ensembl:ENST00000651971) - c.122G>T (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
COSV69298970 rs557351535 | 41 | R>Q | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.174915140C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915140C>T Locations: - p.Arg41Gln (Ensembl:ENST00000651971) - c.122G>A (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1304221699 | 42 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000002.12:g.174915138G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915138G>C Locations: - p.Pro42Ala (Ensembl:ENST00000651971) - c.124C>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs769708457 | 44 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000002.12:g.174915131A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915131A>G Locations: - p.Leu44Pro (Ensembl:ENST00000651971) - c.131T>C (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1688809691 | 45 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000002.12:g.174915128T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915128T>C Locations: - p.Asp45Gly (Ensembl:ENST00000651971) - c.134A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1688809780 | 45 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Accession: NC_000002.12:g.174915129C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915129C>A Locations: - p.Asp45Tyr (Ensembl:ENST00000651971) - c.133G>T (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
COSV69296922 rs1688809604 | 46 | C>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: Yes Accession: NC_000002.12:g.174915126A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915126A>C Locations: - p.C46G (NCI-TCGA:ENST00000651971) - p.Cys46Gly (Ensembl:ENST00000651971) - c.136T>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
RCV001129379 rs370140469 | 46 | C>Y | Duane retraction syndrome 2 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000002.12:g.174915125C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915125C>T Locations: - p.Cys46Tyr (Ensembl:ENST00000651971) - c.137G>A (Ensembl:ENST00000651971) Disease association: - Duane retraction syndrome 2 Source type: large scale study Cross-references: | |||||||
rs1574159388 | 48 | *>G | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NC_000002.12:g.174915120A>C Codon: TGA/GGA Consequence type: stop lost Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915120A>C Locations: - p.Ter48GlyextTer44 (Ensembl:ENST00000651971) - c.142T>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: | |||||||
rs1290382873 | 48 | *>W | gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000002.12:g.174915118T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q31.1 Genomic location: NC_000002.12:g.174915118T>C Locations: - p.Ter48TrpextTer44 (Ensembl:ENST00000651971) - c.144A>G (Ensembl:ENST00000651971) Source type: large scale study Cross-references: |