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Details for NOD2:c.259C>T, p.Arg87Cys

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
50733584	50699673

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.259C>T

PROTEIN CHANGE

p.Arg87Cys

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
2.39e-05	0.0	0.0	0.0	0.0	0.0	4.405e-05	0.0001631	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.04175	Polymorphism

DBSNP ID

1 combination linked to NOD2:c.259C>T, p.Arg87Cys

1 disease linked to NOD2:c.259C>T, p.Arg87Cys

Autoinflammatory syndrome

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