| Variant ID | 8983 |
|---|---|
| Entrez Gene ID | 10973 |
| Gene | ASCC3 (GeneCards) |
| Location | hg19 6:101304912-101304912
hg38 6:100857036-100857036 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.101304912 T>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4346 |
| CADD Raw score (version 1.3) | -0.588805 (Deleterious) |
| FATHMM raw prediction score | 0.14962 (Tolerated) |
| Deleterious probability by DeFine | 0.495 (Neutral) |
| Entrez Gene ID | 10973 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASCC3 (GeneCards) |
| Number of variants in ASCC3 in this database | 9 (view all the variants) |
| Full name | activating signal cointegrator 1 complex subunit 3 |
| Band | 6q16.3 |
| Other IDs | Vega: OTTHUMG00000015279 OMIM: 614217 HGNC: HGNC:18697 Ensembl: ENSG00000112249 |
| Other names | RNAH, HELIC1, ASC1p200 |
| Summary | This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
| 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; |