Annotation Detail
Information
- Associated Genes
- HFE
- Associated Variants
-
HFE p.Glu168Ter (p.E168*)
(
ENST00000309234.11,
ENST00000317896.11,
ENST00000336625.12,
ENST00000349999.8,
ENST00000352392.8,
ENST00000353147.9,
ENST00000357618.10,
ENST00000397022.7,
ENST00000461397.6,
ENST00000470149.5,
ENST00000485729.2,
ENST00000488199.5,
ENST00000714164.1,
ENST00000714170.1,
ENST00000714172.1,
ENST00000714174.1 )
HFE p.Glu168Ter (p.E168*) ( ENST00000309234.11, ENST00000317896.11, ENST00000336625.12, ENST00000349999.8, ENST00000352392.8, ENST00000353147.9, ENST00000357618.10, ENST00000397022.7, ENST00000461397.6, ENST00000470149.5, ENST00000485729.2, ENST00000488199.5, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 ) - Associated Disease
- Hereditary hemochromatosis
- Source Database
- ClinVar
- Description
- NM_000410.4(HFE):c.502G>T (p.Glu168Ter) AND Hereditary hemochromatosis
- ClinVar Allele ID
- 94503
- ClinVar RefSeq Alternation Syntax
- NM_001384164.1:c.502G>T
- ClinVar RefSeq Alternation Syntax
- NM_139009.3:c.433G>T
- ClinVar RefSeq Alternation Syntax
- NM_139011.3:c.77-1644G>T
- ClinVar RefSeq Alternation Syntax
- NM_139008.3:c.238G>T
- ClinVar RefSeq Alternation Syntax
- NM_139003.3:c.340+371G>T
- ClinVar RefSeq Alternation Syntax
- NM_139004.3:c.340+371G>T
- ClinVar RefSeq Alternation Syntax
- NM_139010.3:c.77-1210G>T
- ClinVar RefSeq Alternation Syntax
- NM_001300749.3:c.502G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406751.1:c.502G>T
- ClinVar RefSeq Alternation Syntax
- NM_139006.3:c.502G>T
- ClinVar RefSeq Alternation Syntax
- NM_000410.4:c.502G>T
- ClinVar RefSeq Alternation Syntax
- NM_001406752.1:c.238G>T
- ClinVar RefSeq Alternation Syntax
- NM_139007.3:c.238G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-12-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001058987
- ClinVar Disease
- Hereditary hemochromatosis
- Observed Origin Sample
- germline
Drugs