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Details for LRP5:c.3989C>T, p.Ala1330Val

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68201295	68433827

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3989C>T

PROTEIN CHANGE

p.Ala1330Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.116	0.0219	0.1542	0.2034	0.1342	0.1074

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.1341	0.04334	0.1869	0.1151	0.2038	0.04337	0.1391	0.1367	0.1298

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.604804	Polymorphism

DBSNP ID

4 combinations linked to LRP5:c.3989C>T, p.Ala1330Val

OLI1251; OLI1253; OLI1256; OLI1258

1 disease linked to LRP5:c.3989C>T, p.Ala1330Val

Familial exudative vitreoretinopathy

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