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Details for LRP5:c.34_36del, p.Leu16_Leu20del

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68080214	68312746

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CGCT

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.34_36del

PROTEIN CHANGE

p.Leu16_Leu20del

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
None	None	0.723793	Polymorphism

DBSNP ID

1 combination linked to LRP5:c.34_36del, p.Leu16_Leu20del

1 disease linked to LRP5:c.34_36del, p.Leu16_Leu20del

Familial exudative vitreoretinopathy

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