Annotation Detail
Information
- Associated Genes
- DHCR7
- Associated Variants
-
DHCR7 p.Tyr280Cys (p.Y280C)
(
ENST00000683714.1,
ENST00000682708.1,
ENST00000685320.1,
ENST00000683287.1,
ENST00000355527.8,
ENST00000527316.6,
ENST00000407721.6,
ENST00000682880.1,
ENST00000526780.6 )
DHCR7 p.Tyr280Cys (p.Y280C) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 ) - Associated Disease
- Smith-Lemli-Opitz syndrome
- Source Database
- ClinVar
- Description
- NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys) AND Smith-Lemli-Opitz syndrome
- ClinVar Allele ID
- 21829
- ClinVar RefSeq Alternation Syntax
- NM_001163817.2:c.839A>G
- ClinVar RefSeq Alternation Syntax
- NM_001360.3:c.839A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-12-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007192
- ClinVar Disease
- Smith-Lemli-Opitz syndrome
- Observed Origin Sample
- germline
- Pubmed
- 11857552
Drugs