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Details for KRT19:c.913G>A, p.Gly305Ser

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
39680430	41524178

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.913G>A

PROTEIN CHANGE

p.Gly305Ser

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
1.99e-05	0.0	2.893e-05	0.0	5.438e-05	0.0	2.641e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.212244	Polymorphism

DBSNP ID

1 combination linked to KRT19:c.913G>A, p.Gly305Ser

1 disease linked to KRT19:c.913G>A, p.Gly305Ser

Non-Syndromic genetic keratoconus

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