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Details for FZD4:c.97C>T, p.Pro33Ser

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
86666031	86954989

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.97C>T

PROTEIN CHANGE

p.Pro33Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0126	0.0015	0.0245	0.001	0.0109	0.0327

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.01686	0.003374	0.04668	0.01415	0.0002227	0.002218	0.01619	0.01473	0.01352

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.308867	Polymorphism

DBSNP ID

1 combination linked to FZD4:c.97C>T, p.Pro33Ser

1 disease linked to FZD4:c.97C>T, p.Pro33Ser

Familial exudative vitreoretinopathy

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