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Details for PIK3CG:c.850G>A, p.Glu284Lys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
106508856	106868411

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.850G>A

PROTEIN CHANGE

p.Glu284Lys

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
2.784e-05	0.0	5.783e-05	0.0	0.0001631	0.0	8.793e-06	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.419817	Polymorphism

DBSNP ID

1 combination linked to PIK3CG:c.850G>A, p.Glu284Lys

1 disease linked to PIK3CG:c.850G>A, p.Glu284Lys

Non-Syndromic genetic keratoconus

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