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Details for HSPG2:c.9476G>A, p.Arg3159Gln

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
22167631	21841138

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.9476G>A

PROTEIN CHANGE

p.Arg3159Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002707	6.277e-05	0.0002324	0.0	0.0	0.0	0.0004751	0.0006633	3.273e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.575033	Polymorphism

DBSNP ID

1 combination linked to HSPG2:c.9476G>A, p.Arg3159Gln

1 disease linked to HSPG2:c.9476G>A, p.Arg3159Gln

Non-Syndromic genetic keratoconus

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