| Variant ID | 919 |
|---|---|
| Entrez Gene ID | 8001 |
| Gene | GLRA3 (GeneCards) |
| Location | hg19 4:175604058-175604058
hg38 4:174682907-174682907 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.175604058 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 203 |
| Amino acid changes in protein | W > R |
| 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 | 1.0592 |
| CADD Raw score (version 1.3) | 6.245057 (Deleterious) |
| FATHMM raw prediction score | 0.9499 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.655 (Deleterious) |
| PROVEAN score | -12.98 (Deleterious) |
| MetaSVM score | 0.895 (Deleterious) |
| MetaLR score | 0.798 (Deleterious) |
| MCAP score | 0.709 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.62 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.425 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.809 |
| Deleterious probability by iFish2 | 0.9999 (Deleterious) |
| Deleterious probability by DeFine | 0.9545 (Deleterious) |
| Entrez Gene ID | 8001 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GLRA3 (GeneCards) |
| Number of variants in GLRA3 in this database | 1 (view all the variants) |
| Full name | glycine receptor alpha 3 |
| Band | 4q34.1 |
| Other IDs | Vega: OTTHUMG00000149816 OMIM: 600421 HGNC: HGNC:4328 Ensembl: ENSG00000145451 |
| Other names | None |
| Summary | This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] |
| 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; |