Annotation Detail
Information
- Associated Genes
- HJV
- Associated Variants
-
HJV p.Arg326Ter (p.R326*)
(
ENST00000636675.1,
ENST00000336751.11,
ENST00000475797.1,
ENST00000357836.5,
ENST00000497365.5 )
HJV p.Arg326Ter (p.R326*) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 ) - Associated Disease
- hemochromatosis type 2A
- Source Database
- ClinVar
- Description
- NM_213653.4(HJV):c.976C>T (p.Arg326Ter) AND Hemochromatosis type 2A
- ClinVar Allele ID
- 17405
- ClinVar RefSeq Alternation Syntax
- NM_202004.4:c.298C>T
- ClinVar RefSeq Alternation Syntax
- NM_145277.5:c.637C>T
- ClinVar RefSeq Alternation Syntax
- NM_213653.4:c.976C>T
- ClinVar RefSeq Alternation Syntax
- NM_001316767.2:c.298C>T
- ClinVar RefSeq Alternation Syntax
- NM_213652.4:c.298C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379352.1:c.976C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-12
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002463
- ClinVar Disease
- Hemochromatosis type 2A
- Observed Origin Sample
- germline
- Pubmed
- 14647275
Drugs