Details for NLRP12:c.2764G>C, p.Gly922Arg

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
5430166353798409
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NLRP12
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_001277126.2
CDNA CHANGE c.2764G>C
PROTEIN CHANGE p.Gly922Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.818e-050.00.00.00.00.00.00018670.00016450.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.881021Polymorphism
DBSNP ID NA
1 combination linked to NLRP12:c.2764G>C, p.Gly922Arg OLI1764
1 disease linked to NLRP12:c.2764G>C, p.Gly922Arg Autoinflammatory syndrome
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