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Details for POLE:c.4900C>T, p.Arg1634Cys

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
133219144	132642558

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.4900C>T

PROTEIN CHANGE

p.Arg1634Cys

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
2.39e-05	0.0	2.892e-05	0.0	0.0	0.0	0.0	0.0	0.0001633

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.175906	Polymorphism

DBSNP ID

1 combination linked to POLE:c.4900C>T, p.Arg1634Cys

1 disease linked to POLE:c.4900C>T, p.Arg1634Cys

Primary ovarian failure

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