| Variant ID | 29328 |
|---|---|
| Entrez Gene ID | 2977 |
| Gene | GUCY1A2 (GeneCards) |
| Location | hg19 11:106681067-106681067
hg38 11:106810341-106810341 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.106681067 G>A (Genome Assembly: hg19) |
| 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 |
|---|---|
| EIGEN score | 1.0181 |
| CADD Raw score (version 1.3) | 0.514056 (Deleterious) |
| FATHMM raw prediction score | 0.44361 (Tolerated) |
| Deleterious probability by DeFine | 0.7226 (Deleterious) |
| 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 | 28714951.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |