| Variant ID | 13896 |
|---|---|
| Entrez Gene ID | 29119 |
| Gene | CTNNA3 (GeneCards) |
| Location | hg19 10:67974126-67974126
hg38 10:66214368-66214368 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.67974126 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.28 |
| CADD Raw score (version 1.3) | 0.391641 (Deleterious) |
| FATHMM raw prediction score | 0.15249 (Tolerated) |
| Deleterious probability by DeFine | 0.6302 (Deleterious) |
| Entrez Gene ID | 29119 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CTNNA3 (GeneCards) |
| Number of variants in CTNNA3 in this database | 26 (view all the variants) |
| Full name | catenin alpha 3 |
| Band | 10q21.3 |
| Other IDs | Vega: OTTHUMG00000018334 OMIM: 607667 HGNC: HGNC:2511 Ensembl: ENSG00000183230 |
| Other names | VR22, ARVD13 |
| Summary | This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |