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Details for LRP5:c.3922G>A, p.Gly1308Ser

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68201228	68433760

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.3922G>A

PROTEIN CHANGE

p.Gly1308Ser

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
4.036e-06	0.0	0.0	0.0	5.488e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.844651	Disease causing

DBSNP ID

1 combination linked to LRP5:c.3922G>A, p.Gly1308Ser

1 disease linked to LRP5:c.3922G>A, p.Gly1308Ser

Familial exudative vitreoretinopathy

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