Details for ZNRF3:c.766G>A, p.Val256Met

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
2944272529046737
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ZNRF3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001206998.1
CDNA CHANGE c.766G>A
PROTEIN CHANGE p.Val256Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.065e-060.00.00.00.00.00.00.03.37e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.122816Polymorphism
DBSNP ID rs756388076
1 combination linked to ZNRF3:c.766G>A, p.Val256Met OLI711
1 disease linked to ZNRF3:c.766G>A, p.Val256Met Isolated anencephaly
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