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Details for NOD2:c.1292C>T, p.Ser431Leu

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
50745114	50711203

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1292C>T

PROTEIN CHANGE

p.Ser431Leu

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
0.0009651	0.0003705	0.0007518	9.944e-05	0.0	0.0	0.001669	0.001305	0.000392

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.66029	Polymorphism

DBSNP ID

1 combination linked to NOD2:c.1292C>T, p.Ser431Leu

1 disease linked to NOD2:c.1292C>T, p.Ser431Leu

Autoinflammatory syndrome

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