Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Ser1191Leu (p.S1191L), CFH p.Ser1191Leu (p.S1191L)
(
ENST00000696029.1,
ENST00000695976.1,
ENST00000696028.1,
ENST00000696027.1,
ENST00000695984.1,
ENST00000695981.1,
ENST00000695971.1,
ENST00000695974.1,
ENST00000695970.1,
ENST00000367429.9 )
ENSG00000289697 p.Ser1191Leu (p.S1191L), CFH p.Ser1191Leu (p.S1191L) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 ) - Associated Disease
- Factor H deficiency
- Source Database
- ClinVar
- Description
- NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) AND Factor H deficiency
- ClinVar Allele ID
- 31584
- ClinVar RefSeq Alternation Syntax
- NM_000186.4:c.3572C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003450644
- ClinVar Disease
- Factor H deficiency
- Observed Origin Sample
- germline
Drugs