| Variant ID | 14557 |
|---|---|
| Entrez Gene ID | 29119 |
| Gene | CTNNA3 (GeneCards) |
| Location | hg19 10:68280473-68280473
hg38 10:66520715-66520715 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.68280473 G>A (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 | 0.1287 |
| CADD Raw score (version 1.3) | 5.52782 (Deleterious) |
| FATHMM raw prediction score | 0.86883 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.007 (Tolerated) |
| MutationTaster score | 0.559 (Tolerated) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | -2.94 (Deleterious) |
| MetaSVM score | -0.986 (Tolerated) |
| MetaLR score | 0.092 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.22 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.225 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.105 |
| Deleterious probability by iFish2 | 0.2259 (Neutral) |
| Deleterious probability by DeFine | 0.8884 (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 | 29217584.13 (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; |