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Details for LRP5:c.2578T>C, p.Trp860Arg

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68181231	68413763

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2578T>C

PROTEIN CHANGE

p.Trp860Arg

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
Deleterious	Damaging	3.881682	Disease causing

DBSNP ID

1 combination linked to LRP5:c.2578T>C, p.Trp860Arg

1 disease linked to LRP5:c.2578T>C, p.Trp860Arg

Familial exudative vitreoretinopathy

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