| Variant ID | 1380 |
|---|---|
| Entrez Gene ID | 2767 |
| Gene | GNA11 (GeneCards) |
| Location | hg19 19:3118953-3118953
hg38 19:3118955-3118955 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000019.9:g.3118953_3118953 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_002067.4 |
| mRNA length | 4145 |
| Reference length | 59128983 |
| Deleterious probability by DeFine | 0.855 (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 | 28867142.39 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |