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Details for NOD2:c.2372G>A, p.Arg791Gln

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
50746194	50712283

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2372G>A

PROTEIN CHANGE

p.Arg791Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001603	0.0002462	0.0008384	0.009333	0.0	0.0009793	0.002088	0.001795	0.0002287

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	-0.322153	Polymorphism

DBSNP ID

2 combinations linked to NOD2:c.2372G>A, p.Arg791Gln

OLI1756; OLI1788

1 disease linked to NOD2:c.2372G>A, p.Arg791Gln

Autoinflammatory syndrome

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