| Variant ID | 1046 |
|---|---|
| Entrez Gene ID | 2767 |
| Gene | GNA11 (GeneCards) |
| Location | hg19 19:3115011-3115011
hg38 19:3115013-3115013 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.3115011 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 182 |
| Amino acid changes in protein | V > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7101 |
| CADD Raw score (version 1.3) | 1.897233 (Deleterious) |
| FATHMM raw prediction score | 0.77685 (Tolerated) |
| Deleterious probability by DeFine | 0.8789 (Deleterious) |
| Entrez Gene ID | 2767 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GNA11 (GeneCards) |
| Number of variants in GNA11 in this database | 2 (view all the variants) |
| Full name | G protein subunit alpha 11 |
| Band | 19p13.3 |
| Other IDs | Vega: OTTHUMG00000180631 OMIM: 139313 HGNC: HGNC:4379 Ensembl: ENSG00000088256 |
| Other names | FBH, FBH2, FHH2, HHC2, GNA-11, HYPOC2 |
| Summary | The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013] |
| 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; |