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Details for ITGB4:c.3265G>C, p.Gly1089Arg

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73745075	75748994

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.3265G>C

PROTEIN CHANGE

p.Gly1089Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0015	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
4.01e-05	0.0005593	2.896e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.085257	Disease causing

DBSNP ID

1 combination linked to ITGB4:c.3265G>C, p.Gly1089Arg

1 disease linked to ITGB4:c.3265G>C, p.Gly1089Arg

Non-Syndromic genetic keratoconus

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