Annotation Detail
Information
- Associated Genes
- NR3C2
- Associated Variants
-
NR3C2 p.Ser810Leu (p.S810L)
(
ENST00000344721.8,
ENST00000358102.8,
ENST00000511528.1,
ENST00000512865.5,
ENST00000625323.2 )
NR3C2 p.Ser810Leu (p.S810L) ( ENST00000344721.8, ENST00000358102.8, ENST00000511528.1, ENST00000512865.5, ENST00000625323.2 ) - Associated Disease
- Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
- Source Database
- ClinVar
- Description
- NM_000901.5(NR3C2):c.2429C>T (p.Ser810Leu) AND Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
- ClinVar Allele ID
- 23596
- ClinVar RefSeq Alternation Syntax
- NM_001354819.1:c.2078C>T
- ClinVar RefSeq Alternation Syntax
- NM_000901.5:c.2429C>T
- ClinVar RefSeq Alternation Syntax
- NM_001166104.2:c.2078C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-07-07
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009088
- ClinVar Disease
- Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
- Observed Origin Sample
- germline
- Pubmed
- 10884226
Drugs