| Variant ID | 7107 |
|---|---|
| Entrez Gene ID | 389207 |
| Gene | GRXCR1 (GeneCards) |
| Location | hg19 4:42937931-42937931
hg38 4:42935914-42935914 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.42937931 T>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 | -0.0105 |
| CADD Raw score (version 1.3) | 0.296031 (Deleterious) |
| FATHMM raw prediction score | 0.14253 (Tolerated) |
| Deleterious probability by DeFine | 0.3528 (Neutral) |
| Entrez Gene ID | 389207 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRXCR1 (GeneCards) |
| Number of variants in GRXCR1 in this database | 15 (view all the variants) |
| Full name | glutaredoxin and cysteine rich domain containing 1 |
| Band | 4p13 |
| Other IDs | Vega: OTTHUMG00000160434 OMIM: 613283 HGNC: HGNC:31673 Ensembl: ENSG00000215203 |
| Other names | DFNB25, PPP1R88 |
| Summary | This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010] |
| 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; |