| Variant ID | 22646 |
|---|---|
| Entrez Gene ID | 1496 |
| Gene | CTNNA2 (GeneCards) |
| Location | hg19 2:81311329-81311329
hg38 2:81084205-81084205 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.81311329 C>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2874 |
| CADD Raw score (version 1.3) | -0.122188 (Deleterious) |
| FATHMM raw prediction score | 0.07617 (Tolerated) |
| Deleterious probability by DeFine | 0.6663 (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 | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |