| Variant ID | 15188 |
|---|---|
| Entrez Gene ID | 2977 |
| Gene | GUCY1A2 (GeneCards) |
| Location | hg19 11:106941833-106941833
hg38 11:107071107-107071107 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.106941833 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| EIGEN score | -0.047 |
| CADD Raw score (version 1.3) | 0.160332 (Deleterious) |
| FATHMM raw prediction score | 0.11304 (Tolerated) |
| Deleterious probability by DeFine | 0.38 (Neutral) |
| Entrez Gene ID | 2977 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GUCY1A2 (GeneCards) |
| Number of variants in GUCY1A2 in this database | 10 (view all the variants) |
| Full name | guanylate cyclase 1 soluble subunit alpha 2 |
| Band | 11q22.3 |
| Other IDs | Vega: OTTHUMG00000166296 OMIM: 601244 HGNC: HGNC:4684 Ensembl: ENSG00000152402 |
| Other names | GC-SA2, GUC1A2 |
| Summary | Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
| Individual ID | 29217584.06 (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; |