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Details for GUCY2D:c.1720C>T, p.Arg574Cys

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
7912875	8009557

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1720C>T

PROTEIN CHANGE

p.Arg574Cys

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
2.386e-05	6.152e-05	5.782e-05	0.0	5.437e-05	0.0	1.758e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.679684	Polymorphism

DBSNP ID

1 combination linked to GUCY2D:c.1720C>T, p.Arg574Cys

1 disease linked to GUCY2D:c.1720C>T, p.Arg574Cys

Non-Syndromic genetic keratoconus

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