Details for NOG:c.275G>A, p.Gly92Glu

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
5467185956594498
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NOG
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_005450.4
CDNA CHANGE c.275G>A
PROTEIN CHANGE p.Gly92Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00140.00.0030.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0016510.00091580.0020130.00.00.00014290.0027450.0017510.000398

ESP
AAEA
0.00047370.003161
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.282295Polymorphism
DBSNP ID rs199566527
1 combination linked to NOG:c.275G>A, p.Gly92Glu OLI747
1 disease linked to NOG:c.275G>A, p.Gly92Glu Isolated anencephaly
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