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Details for LRP5:c.2306T>A, p.Leu769His

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68204405	68436937

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2306T>A

PROTEIN CHANGE

p.Leu769His

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.944007	Polymorphism

DBSNP ID

1 combination linked to LRP5:c.2306T>A, p.Leu769His

1 disease linked to LRP5:c.2306T>A, p.Leu769His

Familial exudative vitreoretinopathy

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