Annotation Detail
Information
- Associated Genes
- HJV
- Associated Variants
-
HJV p.Cys321Ter (p.C321*)
(
ENST00000357836.5,
ENST00000497365.5,
ENST00000336751.11,
ENST00000636675.1,
ENST00000475797.1 )
HJV p.Cys321Ter (p.C321*) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 ) - Associated Disease
- hemochromatosis type 1
- Source Database
- ClinVar
- Description
- NM_213653.4(HJV):c.963C>A (p.Cys321Ter) AND Hemochromatosis type 1
- ClinVar Allele ID
- 17410
- ClinVar RefSeq Alternation Syntax
- NM_202004.4:c.285C>A
- ClinVar RefSeq Alternation Syntax
- NM_001316767.2:c.285C>A
- ClinVar RefSeq Alternation Syntax
- NM_213652.4:c.285C>A
- ClinVar RefSeq Alternation Syntax
- NM_213653.4:c.963C>A
- ClinVar RefSeq Alternation Syntax
- NM_145277.5:c.624C>A
- ClinVar RefSeq Alternation Syntax
- NM_001379352.1:c.963C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002469
- ClinVar Disease
- Hemochromatosis type 1
- Observed Origin Sample
- germline
- Pubmed
- 15138164
- Pubmed
- 15254010
Drugs