Details for ZNRF3:c.981C>A, p.His327Gln

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
2944444529048457
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ZNRF3
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_001206998.1
CDNA CHANGE c.981C>A
PROTEIN CHANGE p.His327Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00180.00080.00140.00.0050.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0045410.0009680.0021440.0015890.00.012670.0047080.0056070.006143

ESP
AAEA
0.001390.006232
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.177793Polymorphism
DBSNP ID rs55775472
1 combination linked to ZNRF3:c.981C>A, p.His327Gln OLI744
1 disease linked to ZNRF3:c.981C>A, p.His327Gln Isolated anencephaly
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