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Details for PCSK9:c.2004C>A, p.Ser668Arg

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
55529182	55063509

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2004C>A

PROTEIN CHANGE

p.Ser668Arg

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
2.397e-05	0.0	2.894e-05	0.0	0.0002723	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.881777	Polymorphism

DBSNP ID

1 combination linked to PCSK9:c.2004C>A, p.Ser668Arg

1 disease linked to PCSK9:c.2004C>A, p.Ser668Arg

NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

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