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Details for ITGB4:c.916T>C, p.Ser306Pro

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
73726499	75730418

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.916T>C

PROTEIN CHANGE

p.Ser306Pro

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.940371	Disease causing

DBSNP ID

1 combination linked to ITGB4:c.916T>C, p.Ser306Pro

1 disease linked to ITGB4:c.916T>C, p.Ser306Pro

Non-Syndromic genetic keratoconus

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