Details for ZNRF3:c.2734C>A, p.Gln912Lys

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
2944690329050915
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ZNRF3
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_001206998.1
CDNA CHANGE c.2734C>A
PROTEIN CHANGE p.Gln912Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00072880.00.00019150.00.00.00051270.0013470.00066460.0

ESP
AAEA
0.00.001083
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.105756Polymorphism
DBSNP ID rs199737518
1 combination linked to ZNRF3:c.2734C>A, p.Gln912Lys OLI756
1 disease linked to ZNRF3:c.2734C>A, p.Gln912Lys Isolated anencephaly
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