Annotation Detail
Information
- Associated Genes
- DHCR7
- Associated Variants
-
DHCR7 p.Val326Leu (p.V326L)
(
ENST00000683287.1,
ENST00000355527.8,
ENST00000407721.6,
ENST00000527316.6,
ENST00000526780.6,
ENST00000683714.1,
ENST00000682708.1,
ENST00000685320.1 )
DHCR7 p.Val326Leu (p.V326L) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 ) - Associated Disease
- Smith-Lemli-Opitz syndrome
- Source Database
- ClinVar
- Description
- NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) AND Smith-Lemli-Opitz syndrome
- ClinVar Allele ID
- 21824
- ClinVar RefSeq Alternation Syntax
- NM_001360.3:c.976G>T
- ClinVar RefSeq Alternation Syntax
- NM_001163817.2:c.976G>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007187
- ClinVar Disease
- Smith-Lemli-Opitz syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 10814720
- Pubmed
- 15521979
- Pubmed
- 9653161
- Pubmed
- 11175299
Drugs