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Details for NOD2:c.3019dup, p.Leu1007fs

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
50763781	50729870

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

CC

TRANSCRIPT

CDNA CHANGE

c.3019dup

PROTEIN CHANGE

p.Leu1007fs

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.602728	Disease causing

DBSNP ID

7 combinations linked to NOD2:c.3019dup, p.Leu1007fs

OLI1751; OLI1755; OLI1759; OLI1760; OLI1767; OLI1773; OLI1789

1 disease linked to NOD2:c.3019dup, p.Leu1007fs

Autoinflammatory syndrome

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