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Details for SMC1B:c.863A>G, p.Glu288Gly

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
45795225	45399345

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.863A>G

PROTEIN CHANGE

p.Glu288Gly

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
1.285e-05	0.0	0.0	0.0	0.0001767	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.807928	Polymorphism

DBSNP ID

1 combination linked to SMC1B:c.863A>G, p.Glu288Gly

1 disease linked to SMC1B:c.863A>G, p.Glu288Gly

Primary ovarian failure

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