Details for IL12B:c.877A>G,

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
158743803159316795
VARIANT EFFECT None
ANNOTATION FLAG None
GENE IL12B
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_002187.3
CDNA CHANGE c.877A>G
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.037e-060.00.00.00.00.09.049e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.255429Polymorphism
DBSNP ID NA
1 combination linked to IL12B:c.877A>G, OLI1332
1 disease linked to IL12B:c.877A>G, Primary immunodeficiency

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