Details for MCM4:c.1970C>T, p.Ala657Val

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
4888545847972898
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MCM4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.1970C>T
PROTEIN CHANGE p.Ala657Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.520165Polymorphism
DBSNP ID NA
1 combination linked to MCM4:c.1970C>T, p.Ala657Val OLI1240
1 disease linked to MCM4:c.1970C>T, p.Ala657Val Recurrent Pregnancy Loss

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