Details for HFE:p.Cys282Tyr

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
2609314126092913
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE HFE
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Cys282Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01260.00230.02160.00.04270.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.033210.01070.013560.011710.00010870.03490.057410.039110.002221

ESP
AAEA
0.015210.06407
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.538909Polymorphism
DBSNP ID rs1800562
2 combinations linked to HFE:p.Cys282Tyr OLI186; OLI187
1 disease linked to HFE:p.Cys282Tyr Rare hereditary hemochromatosis
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