Annotation Detail
Information
- Associated Genes
- HJV
- Associated Variants
-
HJV p.Cys80Arg (p.C80R)
(
ENST00000636675.1,
ENST00000475797.1,
ENST00000336751.11,
ENST00000497365.5,
ENST00000357836.5,
ENST00000634927.1 )
HJV p.Cys80Arg (p.C80R) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000634927.1, ENST00000636675.1 ) - Associated Disease
- hemochromatosis type 2A
- Source Database
- ClinVar
- Description
- NM_213653.4(HJV):c.238T>C (p.Cys80Arg) AND Hemochromatosis type 2A
- ClinVar Allele ID
- 17408
- ClinVar RefSeq Alternation Syntax
- NM_213652.4:c.-21-894T>C
- ClinVar RefSeq Alternation Syntax
- NM_213653.4:c.238T>C
- ClinVar RefSeq Alternation Syntax
- NM_145277.5:c.-102T>C
- ClinVar RefSeq Alternation Syntax
- NM_202004.4:c.-22+104T>C
- ClinVar RefSeq Alternation Syntax
- NM_001316767.2:c.-22+104T>C
- ClinVar RefSeq Alternation Syntax
- NM_001379352.1:c.238T>C
- 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/RCV000002466
- ClinVar Disease
- Hemochromatosis type 2A
- Observed Origin Sample
- germline
- Pubmed
- 15461631
- Pubmed
- 12482411
Drugs