Annotation Detail
Information
- Associated Genes
- EPHX2
- Associated Variants
-
EPHX2 p.Arg287Gln (p.R287Q)
(
ENST00000380476.7,
ENST00000517536.5,
ENST00000518379.5,
ENST00000521400.6,
ENST00000521780.5 )
EPHX2 p.Arg287Gln (p.R287Q) ( ENST00000380476.7, ENST00000517536.5, ENST00000518379.5, ENST00000521400.6, ENST00000521780.5 ) - Associated Disease
- Hypercholesterolemia, familial, 1
- Source Database
- ClinVar
- Description
- NM_001979.6(EPHX2):c.860G>A (p.Arg287Gln) AND Hypercholesterolemia, familial, 1
- ClinVar Allele ID
- 31642
- ClinVar RefSeq Alternation Syntax
- NM_001256483.2:c.662G>A
- ClinVar RefSeq Alternation Syntax
- NM_001979.6:c.860G>A
- ClinVar RefSeq Alternation Syntax
- NM_001256484.2:c.701G>A
- ClinVar RefSeq Alternation Syntax
- NM_001256482.2:c.701G>A
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2005-05-27
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018074
- ClinVar Disease
- Hypercholesterolemia, familial, 1
- Observed Origin Sample
- germline
- Pubmed
- 10862610
- Pubmed
- 15845398
- Pubmed
- 14732757
- Pubmed
- 12522687
- Pubmed
- 12869654
- Pubmed
- 14673705
Drugs