Annotation Detail
Information
- Associated Genes
- C3
- Associated Variants
-
C3 p.Arg102Gly (p.R102G)
(
ENST00000245907.11,
ENST00000695693.1 )
C3 p.Arg102Gly (p.R102G) ( ENST00000245907.11, ENST00000695693.1 ) - Associated Disease
- MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
- Source Database
- ClinVar
- Description
- NM_000064.4(C3):c.304C>G (p.Arg102Gly) AND MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
- ClinVar Allele ID
- 32095
- ClinVar RefSeq Alternation Syntax
- NM_000064.4:c.304C>G
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2013-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018584
- ClinVar Disease
- MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
- Observed Origin Sample
- germline
- Pubmed
- 16687714
- Pubmed
- 1976733
- Pubmed
- 19259132
- Pubmed
- 17634448
- Pubmed
- 17767156
- Pubmed
- 23455636
Drugs