Annotation Detail
Information
- Associated Genes
- SLC40A1
- Associated Variants
-
SLC40A1 p.Gly323Val (p.G323V)
(
ENST00000261024.7 )
SLC40A1 p.Asp270Val (p.D270V) ( ENST00000261024.7 )
SLC40A1 p.Asp270Ala (p.D270A) ( ENST00000261024.7 )
SLC40A1 p.Gly267Asp (p.G267D) ( ENST00000261024.7 )
SLC40A1 p.Gln182His (p.Q182H) ( ENST00000261024.7 )
SLC40A1 p.Asp181Val (p.D181V) ( ENST00000261024.7 )
SLC40A1 p.Asp157Gly (p.D157G) ( ENST00000261024.7 )
SLC40A1 p.Asn144His (p.N144H) ( ENST00000261024.7 )
SLC40A1 p.Gly80Val (p.G80V) ( ENST00000261024.7 )
SLC40A1 p.Ala77Asp (p.A77D) ( ENST00000261024.7 )
SLC40A1 p.Gly323Val (p.G323V) ( ENST00000261024.7 )
SLC40A1 p.Asp270Val (p.D270V) ( ENST00000261024.7 )
SLC40A1 p.Asp270Ala (p.D270A) ( ENST00000261024.7 )
SLC40A1 p.Gly267Asp (p.G267D) ( ENST00000261024.7 )
SLC40A1 p.Gln182His (p.Q182H) ( ENST00000261024.7 )
SLC40A1 p.Asp181Val (p.D181V) ( ENST00000261024.7 )
SLC40A1 p.Asp157Gly (p.D157G) ( ENST00000261024.7 )
SLC40A1 p.Asn144His (p.N144H) ( ENST00000261024.7 )
SLC40A1 p.Gly80Val (p.G80V) ( ENST00000261024.7 )
SLC40A1 p.Ala77Asp (p.A77D) ( ENST00000261024.7 ) - Associated Disease
- HEMOCHROMATOSIS, TYPE 4
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.561628651232482
- Year of publication
- NA
Drugs