| Variant ID | 964 |
|---|---|
| Entrez Gene ID | 2780 |
| Gene | GNAT2 (GeneCards) |
| Location | hg19 1:110152776-110152776
hg38 1:109610154-109610154 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.110152776 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 63 |
| Amino acid changes in protein | P > P |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6691 |
| CADD Raw score (version 1.3) | 0.639999 (Deleterious) |
| FATHMM raw prediction score | 0.9678 (Tolerated) |
| Deleterious probability by DeFine | 0.735 (Deleterious) |
| Entrez Gene ID | 2780 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GNAT2 (GeneCards) |
| Number of variants in GNAT2 in this database | 1 (view all the variants) |
| Full name | G protein subunit alpha transducin 2 |
| Band | 1p13.3 |
| Other IDs | Vega: OTTHUMG00000011639 OMIM: 139340 HGNC: HGNC:4394 Ensembl: ENSG00000134183 |
| Other names | ACHM4, GNATC |
| Summary | Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |