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Details for NLRP3:c.2107C>A, p.Gln703Lys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
247588858	247425556

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2107C>A

PROTEIN CHANGE

p.Gln703Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0224	0.0068	0.0202	0.002	0.0507	0.0368

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.03913	0.009421	0.01874	0.0654	0.001795	0.04838	0.05173	0.04492	0.03786

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.084527	Polymorphism

DBSNP ID

9 combinations linked to NLRP3:c.2107C>A, p.Gln703Lys

OLI1769; OLI1770; OLI1772; OLI1777; OLI1778; OLI1779; OLI1786; OLI1787; OLI1789

1 disease linked to NLRP3:c.2107C>A, p.Gln703Lys

Autoinflammatory syndrome

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