| Variant ID | 19244 |
|---|---|
| Entrez Gene ID | 2562 |
| Gene | GABRB3 (GeneCards) |
| Location | hg19 15:26931584-26931584
hg38 15:26686437-26686437 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.26931584 T>C (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -0.0282 |
| CADD Raw score (version 1.3) | -0.153345 (Deleterious) |
| FATHMM raw prediction score | 0.09718 (Tolerated) |
| Deleterious probability by DeFine | 0.3054 (Neutral) |
| Entrez Gene ID | 2562 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GABRB3 (GeneCards) |
| Number of variants in GABRB3 in this database | 3 (view all the variants) |
| Full name | gamma-aminobutyric acid type A receptor beta3 subunit |
| Band | 15q12 |
| Other IDs | Vega: OTTHUMG00000129231 OMIM: 137192 HGNC: HGNC:4083 Ensembl: ENSG00000166206 |
| Other names | ECA5, EIEE43 |
| Summary | This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013] |
| 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; |