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Details for GRHL1:c.860T>G, p.Val287Gly

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
10104128	9963999

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.860T>G

PROTEIN CHANGE

p.Val287Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.194e-05	0.0	2.892e-05	0.0	0.0	0.0	0.0	0.0003262	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.968276	Polymorphism

DBSNP ID

1 combination linked to GRHL1:c.860T>G, p.Val287Gly

1 disease linked to GRHL1:c.860T>G, p.Val287Gly

Non-Syndromic genetic keratoconus

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