Details for HFE:p.His63Asp

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
2609117926090951
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE HFE
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.His63Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.07310.01130.11530.02880.1720.0706

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.10920.027440.10040.10730.034690.10360.14410.11960.08025

ESP
AAEA
0.031550.1513
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.852173Polymorphism
DBSNP ID rs1799945
1 combination linked to HFE:p.His63Asp OLI167
1 disease linked to HFE:p.His63Asp Porphyria
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