| Variant ID | 959 |
|---|---|
| Entrez Gene ID | 441509 |
| Gene | GLRA4 (GeneCards) |
| Location | hg19 X:102974187-102974187
hg38 X:103719259-103719259 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.102974187 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 244 |
| Amino acid changes in protein | C > S |
| 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) | 5.549069 (Deleterious) |
| FATHMM raw prediction score | 0.99593 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.485 (Deleterious) |
| PROVEAN score | -8.08 (Deleterious) |
| MetaSVM score | -0.055 (Tolerated) |
| MetaLR score | 0.459 (Tolerated) |
| MCAP score | 0.541 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.29 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.6 |
| Deleterious probability by iFish2 | 0.8912 (Deleterious) |
| Deleterious probability by DeFine | 0.9805 (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 | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |