| Variant ID | 29505 |
|---|---|
| Entrez Gene ID | 54714 |
| Gene | CNGB3 (GeneCards) |
| Location | hg19 8:87588291-87588291
hg38 8:86576063-86576063 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000008.10:g.87588291 T>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6972 |
| CADD Raw score (version 1.3) | 0.597032 (Deleterious) |
| FATHMM raw prediction score | 0.08086 (Tolerated) |
| SIFT score | 0.103 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.445 (Tolerated) |
| PROVEAN score | -0.15 (Tolerated) |
| MetaSVM score | -0.986 (Tolerated) |
| MetaLR score | 0.142 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.427 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.431 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.008 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.911 |
| Deleterious probability by iFish2 | 0.4875 (Neutral) |
| Deleterious probability by DeFine | 0.0942 (Neutral) |
| Entrez Gene ID | 54714 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNGB3 (GeneCards) |
| Number of variants in CNGB3 in this database | 4 (view all the variants) |
| Full name | cyclic nucleotide gated channel beta 3 |
| Band | 8q21.3 |
| Other IDs | Vega: OTTHUMG00000163738 OMIM: 605080 HGNC: HGNC:2153 Ensembl: ENSG00000170289 |
| Other names | ACHM1 |
| Summary | This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010] |
| Individual ID | 28714951.181 (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; |