Details for IFNGR1:c.40G>A,

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
137540425137219288
VARIANT EFFECT None
ANNOTATION FLAG None
GENE IFNGR1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000416.3
CDNA CHANGE c.40G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00340.00.00.01390.00.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.001320.00.00.00.016219.587e-053.641e-050.00084150.0006372

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging1.961774Polymorphism
DBSNP ID NA
1 combination linked to IFNGR1:c.40G>A, OLI1330
1 disease linked to IFNGR1:c.40G>A, Primary immunodeficiency
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