Details for C2orf74:c.101T>G, p.Val34Gly

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
6139029461163159
VARIANT EFFECT None
ANNOTATION FLAG None
GENE C2orf74
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.101T>G
PROTEIN CHANGE p.Val34Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.355807Polymorphism
DBSNP ID NA
1 combination linked to C2orf74:c.101T>G, p.Val34Gly OLI917
1 disease linked to C2orf74:c.101T>G, p.Val34Gly Waardenburg syndrome
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