| Variant ID | 8845 |
|---|---|
| Entrez Gene ID | 2908 |
| Gene | NR3C1 (GeneCards) |
| Location | hg19 5:142991284-142991284
hg38 5:143611719-143611719 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.142991284 A>G (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0494 |
| CADD Raw score (version 1.3) | 0.045326 (Deleterious) |
| FATHMM raw prediction score | 0.12697 (Tolerated) |
| Deleterious probability by DeFine | 0.3132 (Neutral) |
| Entrez Gene ID | 2908 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NR3C1 (GeneCards) |
| Number of variants in NR3C1 in this database | 7 (view all the variants) |
| Full name | nuclear receptor subfamily 3 group C member 1 |
| Band | 5q31.3 |
| Other IDs | Vega: OTTHUMG00000129677 OMIM: 138040 HGNC: HGNC:7978 Ensembl: ENSG00000113580 |
| Other names | GR, GCR, GRL, GCCR, GCRST |
| Summary | This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011] |
| 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; |