| Variant ID | 22367 |
|---|---|
| Entrez Gene ID | 2742 |
| Gene | GLRA2 (GeneCards) |
| Location | hg19 X:14858582-14858582
hg38 X:14840460-14840460 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.14858582 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 1.563871 (Deleterious) |
| FATHMM raw prediction score | 0.11499 (Tolerated) |
| Deleterious probability by DeFine | 0.4818 (Neutral) |
| Entrez Gene ID | 2742 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GLRA2 (GeneCards) |
| Number of variants in GLRA2 in this database | 2 (view all the variants) |
| Full name | glycine receptor alpha 2 |
| Band | Xp22.2 |
| Other IDs | Vega: OTTHUMG00000021166 OMIM: 305990 HGNC: HGNC:4327 Ensembl: ENSG00000101958 |
| Other names | GLR |
| Summary | The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |