Annotation Detail
Information
- Associated Genes
- SLC40A1
- Associated Variants
-
SLC40A1 p.Asp270Val (p.D270V)
(
ENST00000261024.7 )
SLC40A1 p.Asp270Val (p.D270V) ( ENST00000261024.7 ) - Associated Disease
- hemochromatosis type 4
- Source Database
- ClinVar
- Description
- NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val) AND Hemochromatosis type 4
- ClinVar Allele ID
- 205544
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-05-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000190909
- ClinVar Disease
- Hemochromatosis type 4
- Observed Origin Sample
- germline
Drugs