Details for NOD2:c.2174C>G, p.Ala725Gly

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5074599650712085
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NOD2
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_022162.3
CDNA CHANGE c.2174C>G
PROTEIN CHANGE p.Ala725Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01840.06730.00430.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0032460.044750.0019370.00.00.00.0001060.0013066.534e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.159966Polymorphism
DBSNP ID NA
1 combination linked to NOD2:c.2174C>G, p.Ala725Gly OLI1752
1 disease linked to NOD2:c.2174C>G, p.Ala725Gly Autoinflammatory syndrome
Found any issues with the data on this page? Report this entry.