Details for IL12B:c.89,

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
158750351159323343
VARIANT EFFECT None
ANNOTATION FLAG None
GENE IL12B
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_002187.3
CDNA CHANGE c.89
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone-0.11457Polymorphism
DBSNP ID NA
1 combination linked to IL12B:c.89, OLI1332
1 disease linked to IL12B:c.89, Primary immunodeficiency

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