Details for MUTYH:c.667A>G, p.Ile223Val

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
4579826945332597
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MUTYH
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_012222.2
CDNA CHANGE c.667A>G
PROTEIN CHANGE p.Ile223Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00021880.00012310.00011579.921e-050.00.00.00036930.00065176.533e-05

ESP
AAEA
0.00.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedUnknown2.513816Polymorphism
DBSNP ID rs200872702
1 combination linked to MUTYH:c.667A>G, p.Ile223Val OLI188
1 disease linked to MUTYH:c.667A>G, p.Ile223Val Colorectal cancer
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