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Details for LRP5:c.4084A>G, p.Ile1362Val

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68204440	68436972

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.4084A>G

PROTEIN CHANGE

p.Ile1362Val

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
1.194e-05	0.0	0.0	0.0	0.0001087	0.0	8.797e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.006718	Polymorphism

DBSNP ID

1 combination linked to LRP5:c.4084A>G, p.Ile1362Val

1 disease linked to LRP5:c.4084A>G, p.Ile1362Val

Familial exudative vitreoretinopathy

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