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Details for NOD2:c.2863G>A, p.Val955Ile

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
50757276	50723365

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2863G>A

PROTEIN CHANGE

p.Val955Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0333	0.0023	0.0634	0.0	0.1054	0.0143

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.06269	0.01409	0.05098	0.1713	0.0006525	0.03934	0.08848	0.07918	0.02062

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.151927	Polymorphism

DBSNP ID

8 combinations linked to NOD2:c.2863G>A, p.Val955Ile

OLI1757; OLI1758; OLI1771; OLI1772; OLI1777; OLI1778; OLI1779; OLI1784

1 disease linked to NOD2:c.2863G>A, p.Val955Ile

Autoinflammatory syndrome

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