Annotation Detail

Information

Associated Genes: HFE
Associated Variants: HFE p.Cys282Tyr (p.C282Y) ( ENST00000357618.10, ENST00000349999.8, ENST00000353147.9, ENST00000488199.5, ENST00000397022.7, ENST00000352392.8, ENST00000470149.5, ENST00000317896.11, ENST00000309234.11, ENST00000461397.6, ENST00000336625.12, ENST00000485729.2, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 )
HFE p.Cys282Tyr (p.C282Y) ( 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.845G>A (p.Cys282Tyr) AND Hemochromatosis type 1
ClinVar Allele ID: 15048
ClinVar RefSeq Alternation Syntax: NM_139011.3:c.77-206G>A
ClinVar RefSeq Alternation Syntax: NM_139008.3:c.539G>A
ClinVar RefSeq Alternation Syntax: NM_139007.3:c.581G>A
ClinVar RefSeq Alternation Syntax: NM_139006.3:c.803G>A
ClinVar RefSeq Alternation Syntax: NM_001406751.1:c.836G>A
ClinVar RefSeq Alternation Syntax: NM_139009.3:c.776G>A
ClinVar RefSeq Alternation Syntax: NM_001384164.1:c.845G>A
ClinVar RefSeq Alternation Syntax: NM_139010.3:c.305G>A
ClinVar RefSeq Alternation Syntax: NM_001406752.1:c.581G>A
ClinVar RefSeq Alternation Syntax: NM_139003.3:c.527G>A
ClinVar RefSeq Alternation Syntax: NM_000410.4:c.845G>A
ClinVar RefSeq Alternation Syntax: NM_139004.3:c.569G>A
ClinVar RefSeq Alternation Syntax: NM_001300749.3:c.845G>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2023-11-05
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000000019
ClinVar Disease: Hemochromatosis type 1
Observed Origin Sample: germline
Observed Origin Sample: unknown
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