Details for ZFPM2:c.302G>A, p.Gly101Glu

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
106573591105561363
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE ZFPM2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_012082.3
CDNA CHANGE c.302G>A
PROTEIN CHANGE p.Gly101Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.244e-050.00.00.00.04.65e-059.81e-050.00016650.0

ESP
AAEA
0.00.0002434
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.715424Polymorphism
DBSNP ID rs199605561
1 combination linked to ZFPM2:c.302G>A, p.Gly101Glu OLI574
1 disease linked to ZFPM2:c.302G>A, p.Gly101Glu Disorder of sex development
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