E9PIN8 · E9PIN8_HUMAN
- ProteinThymocyte expressed, positive selection associated 1
- GeneTESPA1
- 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 | ||
---|---|---|---|---|---|---|---|
rs188445764 | 3 | G>R | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54966078C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966078C>T Locations: - p.Gly3Arg (Ensembl:ENST00000533446) - c.7G>A (Ensembl:ENST00000533446) Source type: large scale study | |||||||
rs865817012 | 3 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54966077C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966077C>A Locations: - p.Gly3Val (Ensembl:ENST00000533446) - c.8G>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs188445764 | 3 | G>W | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.54966078C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966078C>A Locations: - p.Gly3Trp (Ensembl:ENST00000533446) - c.7G>T (Ensembl:ENST00000533446) Source type: large scale study | |||||||
COSV104608345 rs747716129 | 4 | G>E | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.797) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000012.12:g.54966074C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966074C>T Locations: - p.Gly4Glu (Ensembl:ENST00000533446) - c.11G>A (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs936076668 | 4 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.844) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.54966075C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966075C>G Locations: - p.Gly4Arg (Ensembl:ENST00000533446) - c.10G>C (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1951408779 | 5 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.54966072T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966072T>C Locations: - p.Thr5Ala (Ensembl:ENST00000533446) - c.13A>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
COSV57260885 rs971571612 | 6 | N>K | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000012.12:g.54966067G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966067G>C Locations: - p.Asn6Lys (Ensembl:ENST00000533446) - c.18C>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs535963986 | 9 | S>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000012.12:g.54966060T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966060T>C Locations: - p.Ser9Gly (Ensembl:ENST00000533446) - c.25A>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1408934435 | 9 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000012.12:g.54966059C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966059C>T Locations: - p.Ser9Asn (Ensembl:ENST00000533446) - c.26G>A (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1409375541 | 9 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000012.12:g.54966058A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966058A>C Locations: - p.Ser9Arg (Ensembl:ENST00000533446) - c.27T>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1335507783 | 10 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.54966057A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966057A>G Locations: - p.Ser10Pro (Ensembl:ENST00000533446) - c.28T>C (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs774765042 | 11 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54966054T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966054T>C Locations: - p.Ser11Gly (Ensembl:ENST00000533446) - c.31A>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs919835074 | 11 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.54966053C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54966053C>T Locations: - p.Ser11Asn (Ensembl:ENST00000533446) - c.32G>A (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1951249842 | 12 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.54963949T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963949T>C Locations: - p.Ile12Val (Ensembl:ENST00000533446) - c.34A>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1264049854 | 16 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963937G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963937G>C Locations: - p.Leu16Val (Ensembl:ENST00000533446) - c.46C>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1445359556 | 18 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.54963929T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963929T>A Locations: - p.Lys18Asn (Ensembl:ENST00000533446) - c.54A>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs371203487 | 24 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963913C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963913C>G Locations: - p.Glu24Gln (Ensembl:ENST00000533446) - c.70G>C (Ensembl:ENST00000533446) Source type: large scale study | |||||||
rs1157873320 | 24 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963912T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963912T>A Locations: - p.Glu24Val (Ensembl:ENST00000533446) - c.71A>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1172209527 | 25 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.531) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.54963908A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963908A>T Locations: - p.Asp25Glu (Ensembl:ENST00000533446) - c.75T>A (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1951247701 | 26 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.665) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.54963906A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963906A>G Locations: - p.Val26Ala (Ensembl:ENST00000533446) - c.77T>C (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs775943267 | 26 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.54963907C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963907C>T Locations: - p.Val26Ile (Ensembl:ENST00000533446) - c.76G>A (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs765529486 | 27 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963904G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963904G>A Locations: - p.Leu27Phe (Ensembl:ENST00000533446) - c.79C>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs760014653 | 30 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963894A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963894A>G Locations: - p.Leu30Pro (Ensembl:ENST00000533446) - c.89T>C (Ensembl:ENST00000533446) Source type: large scale study | |||||||
rs747628684 | 31 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963891C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963891C>G Locations: - p.Gly31Ala (Ensembl:ENST00000533446) - c.92G>C (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs771807845 | 31 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963892C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963892C>A Locations: - p.Gly31Cys (Ensembl:ENST00000533446) - c.91G>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1349160945 | 40 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000012.12:g.54963865T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963865T>C Locations: - p.Thr40Ala (Ensembl:ENST00000533446) - c.118A>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1047717881 | 40 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.658) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963864G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963864G>A Locations: - p.Thr40Ile (Ensembl:ENST00000533446) - c.119C>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1349160945 | 40 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.658) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.54963865T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963865T>G Locations: - p.Thr40Pro (Ensembl:ENST00000533446) - c.118A>C (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs374279484 | 41 | S>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000012.12:g.54963862A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963862A>C Locations: - p.Ser41Ala (Ensembl:ENST00000533446) - c.121T>G (Ensembl:ENST00000533446) Source type: large scale study | |||||||
rs374279484 | 41 | S>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.54963862A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963862A>G Locations: - p.Ser41Pro (Ensembl:ENST00000533446) - c.121T>C (Ensembl:ENST00000533446) Source type: large scale study | |||||||
COSV57257753 rs749236193 | 42 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.54963858C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963858C>T Locations: - p.Arg42Gln (Ensembl:ENST00000533446) - c.125G>A (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
COSV57258476 rs767900906 | 42 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.12) Somatic: Yes Population frequencies: - MAF: 0.00001204 (gnomAD) Accession: NC_000012.12:g.54963859G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963859G>A Locations: - p.R42W (NCI-TCGA:ENST00000533446) - p.Arg42Trp (Ensembl:ENST00000533446) - c.124C>T (Ensembl:ENST00000533446) Source type: large scale study | |||||||
rs376871530 | 43 | I>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963856T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963856T>A Locations: - p.Ile43Leu (Ensembl:ENST00000533446) - c.127A>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs961466251 | 43 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963855A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963855A>G Locations: - p.Ile43Thr (Ensembl:ENST00000533446) - c.128T>C (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs376871530 | 43 | I>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000012.12:g.54963856T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963856T>C Locations: - p.Ile43Val (Ensembl:ENST00000533446) - c.127A>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs757590911 | 45 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000012.12:g.54963850C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963850C>A Locations: - p.Ala45Ser (Ensembl:ENST00000533446) - c.133G>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs757590911 | 45 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000012.12:g.54963850C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963850C>T Locations: - p.Ala45Thr (Ensembl:ENST00000533446) - c.133G>A (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
COSV57259701 rs1951242953 | 46 | R>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.54963847G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963847G>A Locations: - p.Arg46Ter (Ensembl:ENST00000533446) - c.136C>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs751647202 | 46 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963846C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963846C>G Locations: - p.Arg46Pro (Ensembl:ENST00000533446) - c.137G>C (Ensembl:ENST00000533446) Source type: large scale study | |||||||
COSV57258688 rs751647202 | 46 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001204 (gnomAD) Accession: NC_000012.12:g.54963846C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963846C>T Locations: - p.R46Q (NCI-TCGA:ENST00000533446) - p.Arg46Gln (Ensembl:ENST00000533446) - c.137G>A (Ensembl:ENST00000533446) Source type: large scale study | |||||||
rs1420081992 | 49 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963837G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963837G>A Locations: - p.Thr49Ile (Ensembl:ENST00000533446) - c.146C>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs764285105 | 49 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.98) Somatic: No Accession: NC_000012.12:g.54963838T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963838T>A Locations: - p.Thr49Ser (Ensembl:ENST00000533446) - c.145A>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs911243864 | 50 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000012.12:g.54963834G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963834G>A Locations: - p.Thr50Ile (Ensembl:ENST00000533446) - c.149C>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs911243864 | 50 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000012.12:g.54963834G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963834G>C Locations: - p.Thr50Ser (Ensembl:ENST00000533446) - c.149C>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs758911223 | 51 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963831G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963831G>T Locations: - p.Pro51His (Ensembl:ENST00000533446) - c.152C>A (Ensembl:ENST00000533446) Source type: large scale study | |||||||
rs758911223 | 51 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963831G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963831G>A Locations: - p.Pro51Leu (Ensembl:ENST00000533446) - c.152C>T (Ensembl:ENST00000533446) Source type: large scale study | |||||||
rs758911223 | 51 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963831G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963831G>C Locations: - p.Pro51Arg (Ensembl:ENST00000533446) - c.152C>G (Ensembl:ENST00000533446) Source type: large scale study | |||||||
COSV57257379 rs1951241649 | 51 | P>S | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000012.12:g.54963832G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963832G>A Locations: - p.Pro51Ser (Ensembl:ENST00000533446) - c.151C>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs753255610 | 54 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963822G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963822G>C Locations: - p.Ala54Gly (Ensembl:ENST00000533446) - c.161C>G (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
COSV57258541 rs1951240501 | 56 | G>S | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.54963817C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963817C>T Locations: - p.Gly56Ser (Ensembl:ENST00000533446) - c.166G>A (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs759798287 | 56 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.54963816C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963816C>A Locations: - p.Gly56Val (Ensembl:ENST00000533446) - c.167G>T (Ensembl:ENST00000533446) Source type: large scale study Cross-references: | |||||||
rs1215145633 | 59 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.54963808A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.54963808A>G Locations: - p.Phe59Leu (Ensembl:ENST00000533446) - c.175T>C (Ensembl:ENST00000533446) Source type: large scale study Cross-references: |