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Details for LRP5:c.4511C>T, p.Pro1504Leu

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
68213926	68446458

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.4511C>T

PROTEIN CHANGE

p.Pro1504Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003899	0.0	0.0001735	0.0	0.0	0.002454	0.0002903	0.0008146	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.157421	Polymorphism

DBSNP ID

1 combination linked to LRP5:c.4511C>T, p.Pro1504Leu

1 disease linked to LRP5:c.4511C>T, p.Pro1504Leu

Primary ovarian failure

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