| Variant ID | 15011 |
|---|---|
| Entrez Gene ID | 2620 |
| Gene | GAS2 (GeneCards) |
| Location | hg19 11:22824164-22824164
hg38 11:22802618-22802618 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.22824164 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1226 |
| CADD Raw score (version 1.3) | -0.025617 (Deleterious) |
| FATHMM raw prediction score | 0.10529 (Tolerated) |
| Deleterious probability by DeFine | 0.3659 (Neutral) |
| Entrez Gene ID | 2620 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GAS2 (GeneCards) |
| Number of variants in GAS2 in this database | 2 (view all the variants) |
| Full name | growth arrest specific 2 |
| Band | 11p14.3 |
| Other IDs | Vega: OTTHUMG00000166071 OMIM: 602835 HGNC: HGNC:4167 Ensembl: ENSG00000148935 |
| Other names | GAS-2 |
| Summary | The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017] |
| 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; |