| Variant ID | 8720 |
|---|---|
| Entrez Gene ID | 2559 |
| Gene | GABRA6 (GeneCards) |
| Location | hg19 5:161143103-161143103
hg38 5:161716097-161716097 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.161143103 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0957 |
| CADD Raw score (version 1.3) | 0.023967 (Deleterious) |
| FATHMM raw prediction score | 0.10924 (Tolerated) |
| Deleterious probability by DeFine | 0.1556 (Neutral) |
| Entrez Gene ID | 2559 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GABRA6 (GeneCards) |
| Number of variants in GABRA6 in this database | 6 (view all the variants) |
| Full name | gamma-aminobutyric acid type A receptor alpha6 subunit |
| Band | 5q34 |
| Other IDs | Vega: OTTHUMG00000130351 OMIM: 137143 HGNC: HGNC:4080 Ensembl: ENSG00000145863 |
| Other names | None |
| Summary | GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |