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Details for LRP5:c.1999G>A, p.Val667Met

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68174189	68406721

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1999G>A

PROTEIN CHANGE

p.Val667Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0184	0.0	0.0418	0.001	0.0408	0.0215

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.03806	0.008001	0.03245	0.09321	0.0001088	0.01183	0.05254	0.05479	0.02639

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.266502	Polymorphism

DBSNP ID

3 combinations linked to LRP5:c.1999G>A, p.Val667Met

OLI1253; OLI1256; OLI1258

1 disease linked to LRP5:c.1999G>A, p.Val667Met

Familial exudative vitreoretinopathy

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