Details for NOD2:c.2857A>G, p.Lys953Glu

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5075727050723359
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NOD2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_022162.2
CDNA CHANGE c.2857A>G
PROTEIN CHANGE p.Lys953Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.784e-050.00.00.00.00.06.155e-050.00.0

ESP
AAEA
0.00022750.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.552251Polymorphism
DBSNP ID rs375705174
1 combination linked to NOD2:c.2857A>G, p.Lys953Glu OLI130
1 disease linked to NOD2:c.2857A>G, p.Lys953Glu Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
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