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Details for PCSK9:c.94G>A, p.Glu32Lys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
55505604	55039931

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.94G>A

PROTEIN CHANGE

p.Glu32Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.002	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.75e-05	0.0	0.0	0.0	0.0002997	0.0	0.0	0.0	4.121e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.562331	Disease causing

DBSNP ID

4 combinations linked to PCSK9:c.94G>A, p.Glu32Lys

OLI817; OLI819; OLI820; OLI821

1 disease linked to PCSK9:c.94G>A, p.Glu32Lys

NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

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