| Variant ID | 7101 |
|---|---|
| Entrez Gene ID | 2560 |
| Gene | GABRB1 (GeneCards) |
| Location | hg19 4:47364775-47364775
hg38 4:47362758-47362758 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.47364775 G>A (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0497 |
| CADD Raw score (version 1.3) | -0.250774 (Deleterious) |
| FATHMM raw prediction score | 0.05328 (Tolerated) |
| Deleterious probability by DeFine | 0.2759 (Neutral) |
| Entrez Gene ID | 2560 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GABRB1 (GeneCards) |
| Number of variants in GABRB1 in this database | 4 (view all the variants) |
| Full name | gamma-aminobutyric acid type A receptor beta1 subunit |
| Band | 4p12 |
| Other IDs | Vega: OTTHUMG00000044269 OMIM: 137190 HGNC: HGNC:4081 Ensembl: ENSG00000163288 |
| Other names | EIEE45 |
| Summary | The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |