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Details for FZD4:c.349T>C, p.Cys117Arg

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
86663449	86952407

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.349T>C

PROTEIN CHANGE

p.Cys117Arg

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
3.983e-06	0.0	0.0	0.0	0.0	0.0	8.817e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.573918	Disease causing

DBSNP ID

1 combination linked to FZD4:c.349T>C, p.Cys117Arg

1 disease linked to FZD4:c.349T>C, p.Cys117Arg

Familial exudative vitreoretinopathy

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