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Details for PPIP5K2:c.86A>C, p.Asp29Ala

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
102465379	103129675

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.86A>C

PROTEIN CHANGE

p.Asp29Ala

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
4.079e-06	0.0	3.028e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.362455	Polymorphism

DBSNP ID

1 combination linked to PPIP5K2:c.86A>C, p.Asp29Ala

1 disease linked to PPIP5K2:c.86A>C, p.Asp29Ala

Non-Syndromic genetic keratoconus

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