| Variant ID | 2257 |
|---|---|
| Entrez Gene ID | 55811 |
| Gene | ADCY10 (GeneCards) |
| Location | hg19 1:167833912-167833912
hg38 1:167864674-167864674 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.167833912 G>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6562 |
| CADD Raw score (version 1.3) | -0.395375 (Deleterious) |
| FATHMM raw prediction score | 0.08037 (Tolerated) |
| Deleterious probability by DeFine | 0.0788 (Neutral) |
| Entrez Gene ID | 55811 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADCY10 (GeneCards) |
| Number of variants in ADCY10 in this database | 3 (view all the variants) |
| Full name | adenylate cyclase 10 |
| Band | 1q24.2 |
| Other IDs | Vega: OTTHUMG00000034573 OMIM: 605205 HGNC: HGNC:21285 Ensembl: ENSG00000143199 |
| Other names | SAC, HCA2, SACI, Sacy, hsAC, HEL-S-7a |
| Summary | The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014] |
| Individual ID | 29217584.11 (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; |