Annotation Detail
Information
- Associated Genes
- DHCR7
- Associated Variants
-
DHCR7 p.Trp151Ter (p.W151*)
(
ENST00000526780.6,
ENST00000682880.1,
ENST00000407721.6,
ENST00000527316.6,
ENST00000683287.1,
ENST00000355527.8,
ENST00000685320.1,
ENST00000682708.1,
ENST00000683714.1 )
DHCR7 p.Trp151Ter (p.W151*) ( 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
- DisGeNET
- Description
- Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.
- Pubmed
- 11078571
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.610363549988277
- Year of publication
- 2000
Drugs