Details for ZNRF3:c.1278C>G, p.His426Gln

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
2944544729049459
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ZNRF3
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_001206998.1
CDNA CHANGE c.1278C>G
PROTEIN CHANGE p.His426Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00140.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0009050.00013120.0002620.00.00.00046270.0017240.00066969.856e-05

ESP
AAEA
0.00048470.002029
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.226964Polymorphism
DBSNP ID rs200654061
1 combination linked to ZNRF3:c.1278C>G, p.His426Gln OLI705
1 disease linked to ZNRF3:c.1278C>G, p.His426Gln Isolated anencephaly
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