R4GN58 · R4GN58_HUMAN
- ProteinTHO complex subunit 1
- GeneTHOC1
- 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 | ||
---|---|---|---|---|---|---|---|
rs773364121 | 2 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000018.10:g.252574T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252574T>G Locations: - p.Glu2Asp (Ensembl:ENST00000584642) - c.6A>C (Ensembl:ENST00000584642) Source type: large scale study | |||||||
rs760717085 | 2 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.252575T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252575T>C Locations: - p.Glu2Gly (Ensembl:ENST00000584642) - c.5A>G (Ensembl:ENST00000584642) Source type: large scale study | |||||||
TCGA novel rs1165816026 | 4 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.252570C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252570C>T Locations: - p.E4K (NCI-TCGA:ENST00000584642) - p.Glu4Lys (Ensembl:ENST00000584642) - c.10G>A (Ensembl:ENST00000584642) Source type: large scale study | |||||||
rs1165816026 | 4 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000018.10:g.252570C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252570C>G Locations: - p.Glu4Gln (Ensembl:ENST00000584642) - c.10G>C (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1912313078 | 6 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000018.10:g.252563C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252563C>T Locations: - p.Gly6Glu (Ensembl:ENST00000584642) - c.17G>A (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1367304344 | 8 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.249) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000018.10:g.252557T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252557T>C Locations: - p.Glu8Gly (Ensembl:ENST00000584642) - c.23A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1460407913 | 10 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.33) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000018.10:g.252552C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252552C>G Locations: - p.Ala10Pro (Ensembl:ENST00000584642) - c.28G>C (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1296482811 | 10 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000018.10:g.252551G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252551G>A Locations: - p.Ala10Val (Ensembl:ENST00000584642) - c.29C>T (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs768627342 | 11 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000018.10:g.252549G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252549G>A Locations: - p.Pro11Ser (Ensembl:ENST00000584642) - c.31C>T (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1273745289 | 12 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000018.10:g.252546T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252546T>C Locations: - p.Thr12Ala (Ensembl:ENST00000584642) - c.34A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
COSV99863634 rs1250711792 | 13 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: tolerated (0.07) Somatic: Yes Population frequencies: - MAF: 0.000004041 (gnomAD) Accession: NC_000018.10:g.252542G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252542G>A Locations: - p.T13M (NCI-TCGA:ENST00000584642) - p.Thr13Met (Ensembl:ENST00000584642) - c.38C>T (Ensembl:ENST00000584642) Source type: large scale study | |||||||
rs1456033317 | 14 | C>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000018.10:g.252539C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.252539C>A Locations: - p.Cys14Phe (Ensembl:ENST00000584642) - c.41G>T (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1364352129 | 16 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000018.10:g.247953T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247953T>C Locations: - p.Ile16Val (Ensembl:ENST00000584642) - c.46A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1912148543 | 18 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.307) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.247946A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247946A>G Locations: - p.Ile18Thr (Ensembl:ENST00000584642) - c.53T>C (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1265860043 | 18 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000018.10:g.247947T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247947T>C Locations: - p.Ile18Val (Ensembl:ENST00000584642) - c.52A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
COSV55275117 rs1268575439 | 24 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000018.10:g.247929G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247929G>A Locations: - p.R24* (NCI-TCGA:ENST00000584642) - p.Arg24Ter (Ensembl:ENST00000584642) - c.70C>T (Ensembl:ENST00000584642) Source type: large scale study | |||||||
COSV55274689 rs775390511 | 24 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: tolerated (0.06) Somatic: Yes Population frequencies: - MAF: 0.000004131 (gnomAD) Accession: NC_000018.10:g.247928C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247928C>T Locations: - p.R24Q (NCI-TCGA:ENST00000584642) - p.Arg24Gln (Ensembl:ENST00000584642) - c.71G>A (Ensembl:ENST00000584642) Source type: large scale study | |||||||
rs1912147893 | 25 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.857) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.247926T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247926T>C Locations: - p.Lys25Glu (Ensembl:ENST00000584642) - c.73A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1912147767 | 30 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.247910T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247910T>C Locations: - p.Gln30Arg (Ensembl:ENST00000584642) - c.89A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1912147641 | 31 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.757) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.247907T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247907T>C Locations: - p.Asp31Gly (Ensembl:ENST00000584642) - c.92A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1912146925 | 40 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.247880T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247880T>C Locations: - p.Tyr40Cys (Ensembl:ENST00000584642) - c.119A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs780980533 | 40 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.76) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000018.10:g.247881A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247881A>G Locations: - p.Tyr40His (Ensembl:ENST00000584642) - c.118T>C (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
COSV108018044 rs1912146804 | 42 | K>N | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.826) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000018.10:g.247873C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247873C>A Locations: - p.Lys42Asn (Ensembl:ENST00000584642) - c.126G>T (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1912146705 | 45 | W>* | Ensembl | ||||
Consequence: missense Somatic: No Accession: NC_000018.10:g.247865C>T Codon: TGG/TAG Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247865C>T Locations: - p.Trp45Ter (Ensembl:ENST00000584642) - c.134G>A (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1173878862 | 46 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.247861T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247861T>A Locations: - p.Lys46Asn (Ensembl:ENST00000584642) - c.138A>T (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs373006315 | 47 | T>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000018.10:g.247859G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247859G>A Locations: - p.Thr47Ile (Ensembl:ENST00000584642) - c.140C>T (Ensembl:ENST00000584642) Source type: large scale study | |||||||
rs373006315 | 47 | T>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000018.10:g.247859G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247859G>C Locations: - p.Thr47Ser (Ensembl:ENST00000584642) - c.140C>G (Ensembl:ENST00000584642) Source type: large scale study | |||||||
rs777449755 | 50 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000018.10:g.247850T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.247850T>C Locations: - p.Lys50Arg (Ensembl:ENST00000584642) - c.149A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs548902228 | 53 | E>Q | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000018.10:g.246449C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246449C>G Locations: - p.Glu53Gln (Ensembl:ENST00000584642) - c.157G>C (Ensembl:ENST00000584642) Source type: large scale study | |||||||
rs771499996 | 57 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000018.10:g.246436G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246436G>T Locations: - p.Ala57Asp (Ensembl:ENST00000584642) - c.170C>A (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1286319225 | 58 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000018.10:g.246434C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246434C>T Locations: - p.Val58Ile (Ensembl:ENST00000584642) - c.172G>A (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs530768782 | 61 | S>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000018.10:g.246425T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246425T>C Locations: - p.Ser61Gly (Ensembl:ENST00000584642) - c.181A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs756565871 | 61 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000018.10:g.246424C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246424C>T Locations: - p.Ser61Asn (Ensembl:ENST00000584642) - c.182G>A (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1487448966 | 63 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.246418T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246418T>C Locations: - p.Lys63Arg (Ensembl:ENST00000584642) - c.188A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1293605333 | 65 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.246412T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246412T>A Locations: - p.Asp65Val (Ensembl:ENST00000584642) - c.194A>T (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1465656285 | 66 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000018.10:g.246408A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246408A>C Locations: - p.Asp66Glu (Ensembl:ENST00000584642) - c.198T>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs750734146 | 69 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000018.10:g.246400G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246400G>C Locations: - p.Ala69Gly (Ensembl:ENST00000584642) - c.206C>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1912088648 | 69 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000018.10:g.246401C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246401C>A Locations: - p.Ala69Ser (Ensembl:ENST00000584642) - c.205G>T (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1414526722 | 71 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000018.10:g.246394C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246394C>T Locations: - p.Arg71Lys (Ensembl:ENST00000584642) - c.212G>A (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1414526722 | 71 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000018.10:g.246394C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246394C>G Locations: - p.Arg71Thr (Ensembl:ENST00000584642) - c.212G>C (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1471695835 | 73 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.549) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000018.10:g.246387C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246387C>G Locations: - p.Lys73Asn (Ensembl:ENST00000584642) - c.219G>C (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs140658412 | 74 | M>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000018.10:g.246384C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246384C>T Locations: - p.Met74Ile (Ensembl:ENST00000584642) - c.222G>A (Ensembl:ENST00000584642) Source type: large scale study | |||||||
rs757874733 | 74 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000018.10:g.246386T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246386T>C Locations: - p.Met74Val (Ensembl:ENST00000584642) - c.220A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1459105703 | 75 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000018.10:g.246382T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246382T>C Locations: - p.Glu75Gly (Ensembl:ENST00000584642) - c.224A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs377620376 | 76 | E>K | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000018.10:g.246380C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246380C>T Locations: - p.Glu76Lys (Ensembl:ENST00000584642) - c.226G>A (Ensembl:ENST00000584642) Source type: large scale study | |||||||
rs758539672 | 78 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000018.10:g.246374T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246374T>C Locations: - p.Lys78Glu (Ensembl:ENST00000584642) - c.232A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1336092339 | 78 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000018.10:g.246373T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246373T>G Locations: - p.Lys78Thr (Ensembl:ENST00000584642) - c.233A>C (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs2143249898 | 80 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000018.10:g.246367C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246367C>T Locations: - p.Gly80Glu (Ensembl:ENST00000584642) - c.239G>A (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs753031558 | 80 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000018.10:g.246368C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246368C>T Locations: - p.Gly80Arg (Ensembl:ENST00000584642) - c.238G>A (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs986317244 | 82 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000018.10:g.246361T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246361T>C Locations: - p.Glu82Gly (Ensembl:ENST00000584642) - c.245A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1912086344 | 85 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.246352T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246352T>C Locations: - p.Tyr85Cys (Ensembl:ENST00000584642) - c.254A>G (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1912086232 | 92 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.246332T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246332T>G Locations: - p.Ser92Arg (Ensembl:ENST00000584642) - c.274A>C (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1598300957 | 95 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000018.10:g.246323C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246323C>T Locations: - p.Val95Ile (Ensembl:ENST00000584642) - c.283G>A (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs1912085823 | 96 | *>C | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000018.10:g.246318_246319del Codon: TAA/T Consequence type: stop lost Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246318_246319del Locations: - p.Ter96CysfsTer20 (Ensembl:ENST00000584642) - c.285_286del (Ensembl:ENST00000584642) Source type: large scale study Cross-references: | |||||||
rs759422251 | 96 | *>Q | ExAC gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000018.10:g.246320A>G Codon: TAA/CAA Consequence type: stop lost Cytogenetic band: 18p11.32 Genomic location: NC_000018.10:g.246320A>G Locations: - p.Ter96GlnextTer6 (Ensembl:ENST00000584642) - c.286T>C (Ensembl:ENST00000584642) Source type: large scale study Cross-references: |