Annotation Detail
Information
- Associated Genes
- SLC40A1
- Associated Variants
-
SLC40A1 p.Ala77Asp (p.A77D)
(
ENST00000261024.7 )
SLC40A1 p.Ala77Asp (p.A77D) ( ENST00000261024.7 ) - Associated Disease
- hemochromatosis type 4
- Source Database
- ClinVar
- Description
- NM_014585.6(SLC40A1):c.230C>A (p.Ala77Asp) AND Hemochromatosis type 4
- ClinVar Allele ID
- 20450
- ClinVar RefSeq Alternation Syntax
- NM_014585.6:c.230C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005744
- ClinVar Disease
- Hemochromatosis type 4
- Observed Origin Sample
- germline
- Pubmed
- 16813613
- Pubmed
- 11518736
Drugs