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Details for KPNA2:c.445T>C, p.Ser149Pro

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
66038343	68042227

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.445T>C

PROTEIN CHANGE

p.Ser149Pro

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.052509	Disease causing

DBSNP ID

1 combination linked to KPNA2:c.445T>C, p.Ser149Pro

1 disease linked to KPNA2:c.445T>C, p.Ser149Pro

Primary ovarian failure

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