| Variant ID | 29755 |
|---|---|
| Entrez Gene ID | 5158 |
| Gene | PDE6B (GeneCards) |
| Location | hg19 4:652788-652788
hg38 4:658999-658999 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000004.11:g.652788 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs202073030 |
| EIGEN score | 0.1637 |
| CADD Raw score (version 1.3) | 1.580178 (Deleterious) |
| FATHMM raw prediction score | 0.2404 (Tolerated) |
| Deleterious probability by DeFine | 0.9339 (Deleterious) |
| Entrez Gene ID | 5158 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDE6B (GeneCards) |
| Number of variants in PDE6B in this database | 2 (view all the variants) |
| Full name | phosphodiesterase 6B |
| Band | 4p16.3 |
| Other IDs | Vega: OTTHUMG00000159909 OMIM: 180072 HGNC: HGNC:8786 Ensembl: ENSG00000133256 |
| Other names | rd1, PDEB, RP40, CSNB3, CSNBAD2, GMP-PDEbeta |
| Summary | Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] |
| Individual ID | 28867142.31 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |