| Variant ID | 34345 |
|---|---|
| Entrez Gene ID | 4306 |
| Gene | NR3C2 (GeneCards) |
| Location | hg19 4:149041624-149041624
hg38 4:148120473-148120473 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000004.11:g.149041624 C>T (Genome Assembly: hg19) |
| Exon or Intron | intron |
|---|---|
| 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 | 0.8039 |
| CADD Raw score (version 1.3) | 1.966218 (Deleterious) |
| FATHMM raw prediction score | 0.43452 (Tolerated) |
| Deleterious probability by DeFine | 0.7044 (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 | 24760347.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24760347 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 24760347 |
|---|---|
| Title | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis |
| Journal | Genome Research |
| Publication date | 2014.04 |
| Disease | Asymptomatic |
| Number of cases | Female cases: 1; |