Annotation Detail
Information
- Associated Genes
- SLC40A1
- Associated Variants
-
SLC40A1 p.Asp270Val (p.D270V)
(
ENST00000261024.7 )
SLC40A1 p.Asp270Ala (p.D270A) ( ENST00000261024.7 )
SLC40A1 p.Asp270Val (p.D270V) ( ENST00000261024.7 )
SLC40A1 p.Asp270Ala (p.D270A) ( ENST00000261024.7 ) - Associated Disease
- Iron Overload
- Source Database
- DisGeNET
- Description
- We identified a novel D270V mutation in the SLC40A1 gene in a Black South African female with iron overload.
- Pubmed
- 15338274
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.141421501807606
- Year of publication
- 2004
Drugs