Details for NOD2:c.866A>G, p.Asn289Ser

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5074468850710777
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NOD2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_022162.3
CDNA CHANGE c.866A>G
PROTEIN CHANGE p.Asn289Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0040.00230.01440.00.0070.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0043990.0044350.0057860.00089390.00054370.00088310.0067680.0039186.533e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.53125Polymorphism
DBSNP ID NA
1 combination linked to NOD2:c.866A>G, p.Asn289Ser OLI1772
1 disease linked to NOD2:c.866A>G, p.Asn289Ser Autoinflammatory syndrome
Found any issues with the data on this page? Report this entry.