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Details for MSH4:c.1063A>G, p.Ile355Val

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
76288167	75822482

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1063A>G

PROTEIN CHANGE

p.Ile355Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.004	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001604	0.0	0.0	0.0	0.002178	0.0	9.324e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.266003	Polymorphism

DBSNP ID

1 combination linked to MSH4:c.1063A>G, p.Ile355Val

1 disease linked to MSH4:c.1063A>G, p.Ile355Val

Primary ovarian failure

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