| Variant ID | 11546 |
|---|---|
| Entrez Gene ID | 346562 |
| Gene | GNAT3 (GeneCards) |
| Location | hg19 7:80203734-80203734
hg38 7:80574418-80574418 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.80203734 A>G (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1828 |
| CADD Raw score (version 1.3) | 0.365269 (Deleterious) |
| FATHMM raw prediction score | 0.1516 (Tolerated) |
| Deleterious probability by DeFine | 0.053 (Neutral) |
| Entrez Gene ID | 346562 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GNAT3 (GeneCards) |
| Number of variants in GNAT3 in this database | 4 (view all the variants) |
| Full name | G protein subunit alpha transducin 3 |
| Band | 7q21.11 |
| Other IDs | Vega: OTTHUMG00000155401 OMIM: 139395 HGNC: HGNC:22800 Ensembl: ENSG00000214415 |
| Other names | GDCA |
| Summary | Sweet, bitter, and umami tastes are transmitted from taste receptors by a specific guanine nucleotide binding protein. The protein encoded by this gene is the alpha subunit of this heterotrimeric G protein, which is found not only in the oral epithelium but also in gut tissues. Variations in this gene have been linked to metabolic syndrome. [provided by RefSeq, Dec 2015] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |