Annotation Detail
Information
- Associated Genes
- HJV
- Associated Variants
-
HJV p.Arg329GlnfsTer9 (p.R329Qfs*9)
(
ENST00000336751.11,
ENST00000636675.1,
ENST00000475797.1,
ENST00000357836.5,
ENST00000497365.5 )
HJV p.Ser328AspfsTer10 (p.S328Dfs*10) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 )
HJV p.Leu53= (p.L53=) ( ENST00000336751.11, ENST00000636675.1, ENST00000475797.1, ENST00000634927.1, ENST00000357836.5, ENST00000497365.5 )
HJV p.Leu79= (p.L79=) ( ENST00000634927.1, ENST00000357836.5, ENST00000497365.5, ENST00000336751.11, ENST00000636675.1, ENST00000475797.1 )
HJV p.Leu79= (p.L79=) ( ENST00000634927.1, ENST00000357836.5, ENST00000497365.5, ENST00000336751.11, ENST00000636675.1, ENST00000475797.1 )
HJV p.Leu101Val (p.L101V) ( ENST00000357836.5, ENST00000634927.1, ENST00000497365.5, ENST00000336751.11, ENST00000636675.1, ENST00000475797.1 )
HJV p.Ile222Phe (p.I222F) ( ENST00000475797.1, ENST00000336751.11, ENST00000636675.1, ENST00000497365.5, ENST00000357836.5, ENST00000634927.1 )
HJV p.Ile281Val (p.I281V) ( ENST00000497365.5, ENST00000357836.5, ENST00000475797.1, ENST00000636675.1, ENST00000336751.11 )
HJV p.Gly320Arg (p.G320R) ( ENST00000497365.5, ENST00000357836.5, ENST00000475797.1, ENST00000336751.11, ENST00000636675.1 )
HJV p.Cys321Ser (p.C321S) ( ENST00000475797.1, ENST00000336751.11, ENST00000636675.1, ENST00000497365.5, ENST00000357836.5 )
HJV p.Cys321Phe (p.C321F) ( ENST00000497365.5, ENST00000357836.5, ENST00000475797.1, ENST00000336751.11, ENST00000636675.1 )
HJV p.Gln325= (p.Q325=) ( ENST00000475797.1, ENST00000336751.11, ENST00000636675.1, ENST00000497365.5, ENST00000357836.5 )
HJV p.Arg326Ter (p.R326*) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 )
HJV p.Cys321Trp (p.C321W) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 )
HJV p.Cys321Ter (p.C321*) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 )
HJV p.Gly320Val (p.G320V) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 )
HJV p.Ile281Thr (p.I281T) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 )
HJV p.Ile222Asn (p.I222N) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000634927.1, ENST00000636675.1 )
HJV p.Leu101Pro (p.L101P) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000634927.1, ENST00000636675.1 )
HJV p.Cys80Gly (p.C80G) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000634927.1, ENST00000636675.1 )
HJV p.Cys80Arg (p.C80R) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000634927.1, ENST00000636675.1 )
HJV p.Arg54Ter (p.R54*) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000634927.1, ENST00000636675.1 ) - Associated Disease
- HEMOCHROMATOSIS, TYPE 2A
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- NA
Drugs