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Details for MCM8:c.2132G>T, p.Gly671Val

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
5966626	5985980

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2132G>T

PROTEIN CHANGE

p.Gly671Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004414	6.152e-05	2.892e-05	9.921e-05	0.0	0.0001386	0.0006506	0.0	0.001013

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.668427	Polymorphism

DBSNP ID

1 combination linked to MCM8:c.2132G>T, p.Gly671Val

1 disease linked to MCM8:c.2132G>T, p.Gly671Val

Recurrent Pregnancy Loss

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