Annotation Detail
Information
- Associated Genes
- DHCR7
- Associated Variants
-
DHCR7 c.832-1G>C
(
ENST00000685320.1,
ENST00000683714.1,
ENST00000682708.1,
ENST00000682880.1,
ENST00000526780.6,
ENST00000355527.8,
ENST00000683287.1,
ENST00000407721.6,
ENST00000527316.6 )
DHCR7 c.832-1G>C ( 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.832-1G>C AND Smith-Lemli-Opitz syndrome
- ClinVar Allele ID
- 21815
- ClinVar RefSeq Alternation Syntax
- NM_001360.3:c.832-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001163817.2:c.832-1G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007178
- ClinVar Disease
- Smith-Lemli-Opitz syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 10677299
- Pubmed
- 11562938
- Pubmed
- 10995508
- Pubmed
- 17965227
- Pubmed
- 10710236
- Pubmed
- 9683613
- Pubmed
- 9634533
- Pubmed
- 12794707
- Pubmed
- 15952211
- Pubmed
- 11175299
- Pubmed
- 11298379
Drugs