| Variant ID | 11083 |
|---|---|
| Entrez Gene ID | 107 |
| Gene | ADCY1 (GeneCards) |
| Location | hg19 7:45762462-45762462
hg38 7:45722863-45722863 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.45762462 A>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.7874 |
| CADD Raw score (version 1.3) | 2.324144 (Deleterious) |
| FATHMM raw prediction score | 0.92092 (Tolerated) |
| Deleterious probability by DeFine | 0.9678 (Deleterious) |
| Entrez Gene ID | 107 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADCY1 (GeneCards) |
| Number of variants in ADCY1 in this database | 2 (view all the variants) |
| Full name | adenylate cyclase 1 |
| Band | 7p12.3 |
| Other IDs | Vega: OTTHUMG00000155420 OMIM: 103072 HGNC: HGNC:232 Ensembl: ENSG00000164742 |
| Other names | AC1, DFNB44 |
| Summary | This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
| 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; |