Details for NOD2:c.2722G>C, p.Gly908Arg

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5075654050722629
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NOD2
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_022162.3
CDNA CHANGE c.2722G>C
PROTEIN CHANGE p.Gly908Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00460.00.0130.00.00990.0041

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.011280.0015990.0089040.046330.00.0030950.014270.016450.008002

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.106312Polymorphism
DBSNP ID NA
2 combinations linked to NOD2:c.2722G>C, p.Gly908Arg OLI1758; OLI1783
1 disease linked to NOD2:c.2722G>C, p.Gly908Arg Autoinflammatory syndrome
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