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Details for FZD4:c.205C>T, p.His69Tyr

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
86665923	86954881

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.205C>T

PROTEIN CHANGE

p.His69Tyr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005196	6.387e-05	2.91e-05	0.0002006	0.004278	0.0001861	0.0003271	0.0003309	0.0001311

ESP
AA	EA
0.0	0.0002327

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.250794	Polymorphism

DBSNP ID

1 combination linked to FZD4:c.205C>T, p.His69Tyr

1 disease linked to FZD4:c.205C>T, p.His69Tyr

Familial exudative vitreoretinopathy

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