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Details for NOD2:c.1190C>T, p.Pro397Leu

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
50745012	50711101

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1190C>T

PROTEIN CHANGE

p.Pro397Leu

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
0.0001472	0.000123	5.782e-05	0.0	0.0	0.0	0.0002638	0.0003258	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.644028	Polymorphism

DBSNP ID

1 combination linked to NOD2:c.1190C>T, p.Pro397Leu

1 disease linked to NOD2:c.1190C>T, p.Pro397Leu

Niemann-Pick disease type C

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