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Details for PKP1:c.883C>G, p.Leu295Val

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
201286736	201317608

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.883C>G

PROTEIN CHANGE

p.Leu295Val

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
0.0001925	0.0001245	8.685e-05	0.0	0.0	4.624e-05	0.0003661	0.0001635	0.0

ESP
AA	EA
0.0	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.906281	Disease causing

DBSNP ID

1 combination linked to PKP1:c.883C>G, p.Leu295Val

1 disease linked to PKP1:c.883C>G, p.Leu295Val

Primary ovarian failure

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