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Details for FZD4:c.1282_1285del, p.Asp428fs

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
86662512	86951470

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TTGTC

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1282_1285del

PROTEIN CHANGE

p.Asp428fs

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
7.953e-06	6.152e-05	0.0	0.0	0.0	0.0	8.79e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.257583	Disease causing

DBSNP ID

1 combination linked to FZD4:c.1282_1285del, p.Asp428fs

1 disease linked to FZD4:c.1282_1285del, p.Asp428fs

Familial exudative vitreoretinopathy

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