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Details for ZNF408:c.1010G>C, p.Arg337Pro

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
46726260	46704710

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1010G>C

PROTEIN CHANGE

p.Arg337Pro

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0094	0.0348	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002316	0.03086	0.001341	0.0007506	0.0	0.0	5.444e-05	0.001012	0.0001677

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.304211	Polymorphism

DBSNP ID

1 combination linked to ZNF408:c.1010G>C, p.Arg337Pro

1 disease linked to ZNF408:c.1010G>C, p.Arg337Pro

Familial exudative vitreoretinopathy

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