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Details for ZNF408:c.581_592del, p.Val194_Val197del

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
46724716	46703166

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CAGTGGTGACAGA

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.581_592del

PROTEIN CHANGE

p.Val194_Val197del

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.400418	Polymorphism

DBSNP ID

6 combinations linked to ZNF408:c.581_592del, p.Val194_Val197del

OLI1250; OLI1254; OLI1255; OLI1256; OLI1258; OLI1259

1 disease linked to ZNF408:c.581_592del, p.Val194_Val197del

Familial exudative vitreoretinopathy

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