| Variant ID | 34274 |
|---|---|
| Entrez Gene ID | 1496 |
| Gene | CTNNA2 (GeneCards) |
| Location | hg19 2:80842397-80842397
hg38 2:80615272-80615272 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000002.11:g.80842397 A>T (Genome Assembly: hg19) |
| Exon or Intron | intron |
|---|---|
| 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0775 |
| CADD Raw score (version 1.3) | -0.384199 (Deleterious) |
| FATHMM raw prediction score | 0.16915 (Tolerated) |
| Deleterious probability by DeFine | 0.658 (Deleterious) |
| Entrez Gene ID | 1496 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CTNNA2 (GeneCards) |
| Number of variants in CTNNA2 in this database | 23 (view all the variants) |
| Full name | catenin alpha 2 |
| Band | 2p12 |
| Other IDs | Vega: OTTHUMG00000152903 OMIM: 114025 HGNC: HGNC:2510 Ensembl: ENSG00000066032 |
| Other names | CAPR, CTNR, CAP-R, CT114 |
| Summary | None |
| Individual ID | 24760347.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24760347 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 24760347 |
|---|---|
| Title | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis |
| Journal | Genome Research |
| Publication date | 2014.04 |
| Disease | Asymptomatic |
| Number of cases | Female cases: 1; |