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Details for PON1:c.575A>G, p.Gln192Arg

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
94937446	95308134

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.575A>G

PROTEIN CHANGE

p.Gln192Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	0.7526	0.4986	0.6657	0.2903	0.4243

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.3784	0.6788	0.4952	0.3073	0.6594	0.2769	0.2814	0.3353	0.3824

ESP
AA	EA
0.6605	0.285

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.073767	Polymorphism

DBSNP ID

4 combinations linked to PON1:c.575A>G, p.Gln192Arg

OLI965; OLI967; OLI969; OLI970

1 disease linked to PON1:c.575A>G, p.Gln192Arg

Amyotrophic lateral sclerosis

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