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Details for IPO5:c.929C>T, p.Ala310Val

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
98649800	97997546

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.929C>T

PROTEIN CHANGE

p.Ala310Val

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
Tolerated	Benign	2.907775	Polymorphism

DBSNP ID

1 combination linked to IPO5:c.929C>T, p.Ala310Val

1 disease linked to IPO5:c.929C>T, p.Ala310Val

Non-Syndromic genetic keratoconus

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