Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Arg1078Ser (p.R1078S), CFH p.Arg1078Ser (p.R1078S)
(
ENST00000695976.1,
ENST00000367429.9,
ENST00000695970.1,
ENST00000695974.1,
ENST00000695971.1,
ENST00000695981.1,
ENST00000695984.1,
ENST00000696029.1,
ENST00000696027.1,
ENST00000696028.1 )
ENSG00000289697 p.Arg1078Ser (p.R1078S), CFH p.Arg1078Ser (p.R1078S) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser) AND not provided
- ClinVar Allele ID
- 31600
- ClinVar RefSeq Alternation Syntax
- NM_000186.4:c.3234G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-10-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001723576
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs