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Details for ZEB1:c.2184A>C, p.Glu728Asp

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
31810447	31521519

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2184A>C

PROTEIN CHANGE

p.Glu728Asp

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
1.992e-05	6.152e-05	0.0	0.0	0.0	0.0	3.528e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.516467	Polymorphism

DBSNP ID

1 combination linked to ZEB1:c.2184A>C, p.Glu728Asp

1 disease linked to ZEB1:c.2184A>C, p.Glu728Asp

Non-Syndromic genetic keratoconus

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