Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I)
(
ENST00000695968.1,
ENST00000696030.1,
ENST00000696028.1,
ENST00000630130.2,
ENST00000696023.1,
ENST00000696029.1,
ENST00000695978.1,
ENST00000695987.1,
ENST00000696027.1,
ENST00000695981.1,
ENST00000359637.3,
ENST00000695984.1,
ENST00000695970.1,
ENST00000367429.9,
ENST00000695976.1,
ENST00000695969.1,
ENST00000695974.1,
ENST00000695971.1,
ENST00000695979.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 ) - Associated Disease
- age related macular degeneration 4
- Source Database
- ClinVar
- Description
- NM_000186.4(CFH):c.184G>A (p.Val62Ile) AND Age related macular degeneration 4
- ClinVar Allele ID
- 31589
- ClinVar RefSeq Alternation Syntax
- NM_001014975.3:c.184G>A
- ClinVar RefSeq Alternation Syntax
- NM_000186.4:c.184G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018017
- ClinVar Disease
- Age related macular degeneration 4
- Observed Origin Sample
- germline
- Pubmed
- 15870199
- Pubmed
- 19259132
- Pubmed
- 18252712
- Pubmed
- 21909106
Drugs