Annotation Detail
Information
- Associated Genes
- SLC40A1
- Associated Variants
-
SLC40A1 p.Gly80Val (p.G80V)
(
ENST00000261024.7 )
SLC40A1 p.Gly80Val (p.G80V) ( ENST00000261024.7 ) - Associated Disease
- hemochromatosis type 4
- Source Database
- ClinVar
- Description
- NM_014585.6(SLC40A1):c.239G>T (p.Gly80Val) AND Hemochromatosis type 4
- ClinVar Allele ID
- 20456
- ClinVar RefSeq Alternation Syntax
- NM_014585.6:c.239G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005750
- ClinVar Disease
- Hemochromatosis type 4
- Observed Origin Sample
- germline
- Pubmed
- 16351644
Drugs