| Variant ID | 8379 |
|---|---|
| Entrez Gene ID | 2566 |
| Gene | GABRG2 (GeneCards) |
| Location | hg19 5:162513812-162513812
hg38 5:163086806-163086806 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.162513812 C>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3478 |
| CADD Raw score (version 1.3) | -0.097316 (Deleterious) |
| FATHMM raw prediction score | 0.07296 (Tolerated) |
| Deleterious probability by DeFine | 0.1879 (Neutral) |
| Entrez Gene ID | 2566 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GABRG2 (GeneCards) |
| Number of variants in GABRG2 in this database | 18 (view all the variants) |
| Full name | gamma-aminobutyric acid type A receptor gamma2 subunit |
| Band | 5q34 |
| Other IDs | Vega: OTTHUMG00000130350 OMIM: 137164 HGNC: HGNC:4087 Ensembl: ENSG00000113327 |
| Other names | CAE2, ECA2, GEFSP3 |
| Summary | This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.13 (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; |