Annotation Detail
Information
- Associated Genes
- HFE HFE-AS1
- Associated Variants
-
HFE p.His63Asp (p.H63D)
(
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.His63Asp (p.H63D) ( 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
- hemochromatosis type 1
- Source Database
- ClinVar
- Description
- NM_000410.4(HFE):c.187C>G (p.His63Asp) AND Hemochromatosis type 1
- Pubmed
- 8896550
- Pubmed
- 14673107
- Pubmed
- 11358905
- Pubmed
- 11423500
- ClinVar Allele ID
- 15049
- ClinVar RefSeq Alternation Syntax
- NM_139008.3:c.77-363C>G
- ClinVar RefSeq Alternation Syntax
- NM_000410.4:c.187C>G
- ClinVar RefSeq Alternation Syntax
- NM_139003.3:c.187C>G
- ClinVar RefSeq Alternation Syntax
- NM_139006.3:c.187C>G
- ClinVar RefSeq Alternation Syntax
- NM_139004.3:c.187C>G
- ClinVar RefSeq Alternation Syntax
- NM_139010.3:c.77-1734C>G
- ClinVar RefSeq Alternation Syntax
- NM_001300749.3:c.187C>G
- ClinVar RefSeq Alternation Syntax
- NM_001406751.1:c.187C>G
- ClinVar RefSeq Alternation Syntax
- NR_144383.1:n.84G>C
- ClinVar RefSeq Alternation Syntax
- NM_139011.3:c.77-2168C>G
- ClinVar RefSeq Alternation Syntax
- NM_001384164.1:c.187C>G
- ClinVar RefSeq Alternation Syntax
- NM_139007.3:c.77-363C>G
- ClinVar RefSeq Alternation Syntax
- NM_139009.3:c.118C>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-03-26
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000026
- ClinVar Disease
- Hemochromatosis type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- biparental
- Observed Origin Sample
- unknown
- Pubmed
- 18566337
- Pubmed
- 12429850
- Pubmed
- 11532995
- Pubmed
- 9106528
- Pubmed
- 11904676
- Pubmed
- 8696333
- Pubmed
- 15347835
- Pubmed
- 11812557
Drugs