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Details for LRP6:c.4144G>T, p.Val1382Phe

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
12279793	12126859

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.4144G>T

PROTEIN CHANGE

p.Val1382Phe

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.003	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0007874	0.002707	0.0005204	0.0	0.0	0.0	0.001055	0.001303	0.0002613

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.388026	Polymorphism

DBSNP ID

2 combinations linked to LRP6:c.4144G>T, p.Val1382Phe

OLI1304; OLI1305

1 disease linked to LRP6:c.4144G>T, p.Val1382Phe

NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

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