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Details for NLRP3:c.526C>T, p.Arg176Trp

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
247587277	247423975

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.526C>T

PROTEIN CHANGE

p.Arg176Trp

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
4.383e-05	6.168e-05	5.794e-05	0.0	0.0	0.0	4.406e-05	0.0001632	6.539e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.408532	Disease causing

DBSNP ID

1 combination linked to NLRP3:c.526C>T, p.Arg176Trp

1 disease linked to NLRP3:c.526C>T, p.Arg176Trp

Familial Mediterranean fever

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