| Variant ID | 12492 |
|---|---|
| Entrez Gene ID | 54714 |
| Gene | CNGB3 (GeneCards) |
| Location | hg19 8:87629739-87629739
hg38 8:86617511-86617511 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.87629739 C>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1245 |
| CADD Raw score (version 1.3) | -0.011158 (Deleterious) |
| FATHMM raw prediction score | 0.12659 (Tolerated) |
| Deleterious probability by DeFine | 0.4859 (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 | 29217584.15 (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; |