Annotation Detail
Information
- Associated Genes
- SLC40A1
- Associated Variants
-
SLC40A1 p.Gly267Asp (p.G267D)
(
ENST00000261024.7 )
SLC40A1 p.Gly267Asp (p.G267D) ( ENST00000261024.7 ) - Associated Disease
- hemochromatosis type 4
- Source Database
- ClinVar
- Description
- NM_014585.6(SLC40A1):c.800G>A (p.Gly267Asp) AND Hemochromatosis type 4
- ClinVar Allele ID
- 20457
- ClinVar RefSeq Alternation Syntax
- NM_014585.6:c.800G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005751
- ClinVar Disease
- Hemochromatosis type 4
- Observed Origin Sample
- germline
- Pubmed
- 16351644
Drugs