| Variant ID | 1091 |
|---|---|
| Entrez Gene ID | 4306 |
| Gene | NR3C2 (GeneCards) |
| Location | hg19 4:149357404-149357404
hg38 4:148436252-148436252 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.149357404 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 203 |
| Amino acid changes in protein | S > S |
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 7262324 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.517 |
| CADD Raw score (version 1.3) | 1.306014 (Deleterious) |
| FATHMM raw prediction score | 0.14819 (Tolerated) |
| Deleterious probability by DeFine | 0.7612 (Deleterious) |
| Entrez Gene ID | 4306 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NR3C2 (GeneCards) |
| Number of variants in NR3C2 in this database | 16 (view all the variants) |
| Full name | nuclear receptor subfamily 3 group C member 2 |
| Band | 4q31.23 |
| Other IDs | Vega: OTTHUMG00000161455 OMIM: 600983 HGNC: HGNC:7979 Ensembl: ENSG00000151623 |
| Other names | MR, MCR, MLR, NR3C2VIT |
| Summary | This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
| 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; |