Variant ID | 7112 |
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Entrez Gene ID | 4306 |
Gene | NR3C2 (GeneCards) |
Location | hg19 4:149741117-149741117
hg38 4:148819965-148819965 |
Disease | Cockayne syndrome (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000004.11:g.149741117 T>C (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 |
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EIGEN score | -0.1145 |
CADD Raw score (version 1.3) | -0.086635 (Deleterious) |
FATHMM raw prediction score | 0.10588 (Tolerated) |
Deleterious probability by DeFine | 0.2148 (Neutral) |
Entrez Gene ID | 4306 (NCBI Gene) |
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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 | 29217584.16 (view all the variants in this individual) |
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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 |
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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; |