Annotation Detail
Information
- Associated Genes
- HMCN1
- Associated Variants
-
HMCN1 p.Gln5345Arg (p.Q5345R)
(
ENST00000271588.9 )
HMCN1 p.Gln5345Arg (p.Q5345R) ( ENST00000271588.9 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- The A16,263G mutation in the HEMICENTIN-1 gene produces a non-conservative substitution of arginine for glutamine at codon 5345 which has been implicated in familial AMD.
- Pubmed
- 15467524
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0164358590216495
- Year of publication
- 2004
Drugs