| Variant ID | 11372 |
|---|---|
| Entrez Gene ID | 107 |
| Gene | ADCY1 (GeneCards) |
| Location | hg19 7:45693292-45693292
hg38 7:45653693-45653693 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.45693292 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | -0.197 |
| CADD Raw score (version 1.3) | 0.043582 (Deleterious) |
| FATHMM raw prediction score | 0.11809 (Tolerated) |
| Deleterious probability by DeFine | 0.4604 (Neutral) |
| 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 | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |