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Details for LRP5:c.3361A>G, p.Asn1121Asp

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68192694	68425226

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.3361A>G

PROTEIN CHANGE

p.Asn1121Asp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.003	0.0	0.0	0.0149	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0006397	0.0	0.0	0.0	0.007942	0.0	0.0	0.000654	0.0003266

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.540195	Polymorphism

DBSNP ID

4 combinations linked to LRP5:c.3361A>G, p.Asn1121Asp

OLI185; OLI303; OLI305; OLI315

2 diseases linked to LRP5:c.3361A>G, p.Asn1121Asp

Familial exudative vitreoretinopathy; Retinitis pigmentosa

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