Details for DMRT3:c.897dupC, p.Ala300ArgfsTer4

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
990482990482
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DMRT3
REFERENCE ALLELE C
ALTERNATE ALLELE CC
TRANSCRIPT N.A.
CDNA CHANGE c.897dupC
PROTEIN CHANGE p.Ala300ArgfsTer4
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.25967Disease causing
DBSNP ID NA
1 combination linked to DMRT3:c.897dupC, p.Ala300ArgfsTer4 OLI1065
1 disease linked to DMRT3:c.897dupC, p.Ala300ArgfsTer4 Primary ovarian failure
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