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Details for FZD4:c.502C>T, p.Pro11Gln

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
86663296	86952254

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.502C>T

PROTEIN CHANGE

p.Pro11Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0148	0.0076	0.0245	0.0	0.0109	0.0368

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01839	0.008797	0.04735	0.01449	0.0001631	0.002218	0.01675	0.01598	0.02103

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.565566	Polymorphism

DBSNP ID

2 combinations linked to FZD4:c.502C>T, p.Pro11Gln

OLI1252; OLI1253

1 disease linked to FZD4:c.502C>T, p.Pro11Gln

Familial exudative vitreoretinopathy

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