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Details for MSH5:c.826C>T, p.Arg276Cys

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
31721091	31753314

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.826C>T

PROTEIN CHANGE

p.Arg276Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.982e-06	0.0	0.0	0.0	0.0	0.0	8.806e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.397408	Polymorphism

DBSNP ID

1 combination linked to MSH5:c.826C>T, p.Arg276Cys

1 disease linked to MSH5:c.826C>T, p.Arg276Cys

Primary ovarian failure

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