Annotation Detail
Information
- Associated Genes
- SLC40A1
- Associated Variants
-
SLC40A1 p.Asp157Gly (p.D157G)
(
ENST00000261024.7 )
SLC40A1 p.Asp157Gly (p.D157G) ( ENST00000261024.7 ) - Associated Disease
- hemochromatosis type 4
- Source Database
- ClinVar
- Description
- NM_014585.6(SLC40A1):c.470A>G (p.Asp157Gly) AND Hemochromatosis type 4
- ClinVar Allele ID
- 20451
- ClinVar RefSeq Alternation Syntax
- NM_014585.6:c.470A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-05-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005745
- ClinVar Disease
- Hemochromatosis type 4
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 12730114
Drugs