Annotation Detail
Information
- Associated Genes
- HJV
- Associated Variants
-
HJV p.Gly320Arg (p.G320R)
(
ENST00000497365.5,
ENST00000357836.5,
ENST00000475797.1,
ENST00000336751.11,
ENST00000636675.1 )
HJV p.Gly320Val (p.G320V) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 ) - Associated Disease
- Hereditary hemochromatosis
- Source Database
- DisGeNET
- Description
- Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochromatosis type A. A case report.
- Pubmed
- 20593054
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121357209360402
- Year of publication
- 2010
Drugs