Details for MCM9:c.970G>T, p.Val324Leu

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
119234520118913355
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MCM9
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.970G>T
PROTEIN CHANGE p.Val324Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.631475None
DBSNP ID NA
1 combination linked to MCM9:c.970G>T, p.Val324Leu OLI1041
1 disease linked to MCM9:c.970G>T, p.Val324Leu Primary ovarian failure

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