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Details for ZNF408:c.1964G>C, p.Arg655Thr

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
46727238	46705688

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1964G>C

PROTEIN CHANGE

p.Arg655Thr

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
2.802e-05	0.0001242	2.902e-05	0.0	0.0	0.0	3.546e-05	0.0	0.0

ESP
AA	EA
0.0002272	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.323691	Polymorphism

DBSNP ID

1 combination linked to ZNF408:c.1964G>C, p.Arg655Thr

1 disease linked to ZNF408:c.1964G>C, p.Arg655Thr

Familial exudative vitreoretinopathy

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