Annotation Detail
Information
- Associated Genes
- HJV
- Associated Variants
-
HJV p.Gly320Val (p.G320V)
(
ENST00000475797.1,
ENST00000336751.11,
ENST00000636675.1,
ENST00000497365.5,
ENST00000357836.5 )
HJV p.Gly320Val (p.G320V) ( ENST00000336751.11, ENST00000357836.5, ENST00000475797.1, ENST00000497365.5, ENST00000636675.1 ) - Associated Disease
- hemochromatosis type 1
- Source Database
- ClinVar
- Description
- NM_213653.4(HJV):c.959G>T (p.Gly320Val) AND Hemochromatosis type 1
- Pubmed
- 15811010
- Pubmed
- 14982873
- Pubmed
- 15254010
- Pubmed
- 12891378
- ClinVar Allele ID
- 17404
- ClinVar RefSeq Alternation Syntax
- NM_001316767.2:c.281G>T
- ClinVar RefSeq Alternation Syntax
- NM_213653.4:c.959G>T
- ClinVar RefSeq Alternation Syntax
- NM_213652.4:c.281G>T
- ClinVar RefSeq Alternation Syntax
- NM_145277.5:c.620G>T
- ClinVar RefSeq Alternation Syntax
- NM_202004.4:c.281G>T
- ClinVar RefSeq Alternation Syntax
- NM_001379352.1:c.959G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2009-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002462
- ClinVar Disease
- Hemochromatosis type 1
- Observed Origin Sample
- germline
- Pubmed
- 19796184
- Pubmed
- 14647275
Drugs