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Details for INPPL1:c.2251G>C, p.Glu751Gln

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
71945363	72234319

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2251G>C

PROTEIN CHANGE

p.Glu751Gln

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
2.386e-05	0.0	5.782e-05	9.921e-05	0.0	0.0	1.758e-05	0.0001629	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Unknown	2.575358	Polymorphism

DBSNP ID

1 combination linked to INPPL1:c.2251G>C, p.Glu751Gln

1 disease linked to INPPL1:c.2251G>C, p.Glu751Gln

Non-Syndromic genetic keratoconus

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