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Details for LRP5:c.4517C>T, p.Thr1506Met

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68213932	68446464

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.4517C>T

PROTEIN CHANGE

p.Thr1506Met

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
3.183e-05	0.0	0.0	0.0	5.437e-05	0.0	6.157e-05	0.0	0.0

ESP
AA	EA
0.0	0.0002329

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.097967	Disease causing

DBSNP ID

1 combination linked to LRP5:c.4517C>T, p.Thr1506Met

1 disease linked to LRP5:c.4517C>T, p.Thr1506Met

Familial exudative vitreoretinopathy

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