This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for NOD2:c.2104C>T, p.Arg702Trp

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
50745926	50712015

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2104C>T

PROTEIN CHANGE

p.Arg702Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0144	0.0023	0.0245	0.0	0.0507	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.02605	0.006992	0.02024	0.0223	0.0	0.01873	0.04329	0.03045	0.0003925

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.325543	Polymorphism

DBSNP ID

10 combinations linked to NOD2:c.2104C>T, p.Arg702Trp

OLI1757; OLI1762; OLI1765; OLI1768; OLI1770; OLI1774; OLI1776; OLI1779; OLI1780; OLI1786

1 disease linked to NOD2:c.2104C>T, p.Arg702Trp

Autoinflammatory syndrome

Found any issues with the data on this page? Report this entry.