| Variant ID | 22255 |
|---|---|
| Entrez Gene ID | 441509 |
| Gene | GLRA4 (GeneCards) |
| Location | hg19 X:102972347-102972347
hg38 X:103717419-103717419 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.102972347 C>T (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) | 0.301206 (Deleterious) |
| FATHMM raw prediction score | 0.19593 (Tolerated) |
| Deleterious probability by DeFine | 0.6686 (Deleterious) |
| Entrez Gene ID | 441509 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GLRA4 (GeneCards) |
| Number of variants in GLRA4 in this database | 2 (view all the variants) |
| Full name | glycine receptor alpha 4 |
| Band | Xq22.2 |
| Other IDs | Vega: OTTHUMG00000022110 HGNC: HGNC:31715 Ensembl: ENSG00000188828 |
| Other names | None |
| Summary | This gene encodes a protein which has a neurotransmitter-gated ion-channel ligand binding domain. The encoded protein is very similar to a mouse protein which is a subunit of the retinal glycine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
| Individual ID | 29217584.15 (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; |