Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 c.3580+10T>C, CFH p.Val1197Ala (p.V1197A)
(
ENST00000695981.1,
ENST00000695984.1,
ENST00000695976.1,
ENST00000367429.9,
ENST00000695970.1,
ENST00000695971.1,
ENST00000695974.1,
ENST00000696028.1,
ENST00000696029.1,
ENST00000696027.1 )
ENSG00000289697 c.3580+10T>C, CFH p.Val1197Ala (p.V1197A) ( 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 basal laminar drusen Hemolytic uremic syndrome, atypical, susceptibility to, 1 age related macular degeneration 4
- Source Database
- ClinVar
- Description
- NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) AND multiple conditions
- ClinVar Allele ID
- 33942
- ClinVar RefSeq Alternation Syntax
- NM_000186.4:c.3590T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-04-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002490396
- ClinVar Disease
- Basal laminar drusen
- ClinVar Disease
- Factor H deficiency
- ClinVar Disease
- Hemolytic uremic syndrome, atypical, susceptibility to, 1
- ClinVar Disease
- Age related macular degeneration 4
- Observed Origin Sample
- unknown
Drugs