Details for IGLL1:p.Thr146Met

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
2391565823573471
VARIANT EFFECT None
ANNOTATION FLAG None
GENE IGLL1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Thr146Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0020.00080.00140.0060.0010.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0010630.00043080.00040490.001390.0042419.24e-050.00057310.00065230.002712

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging-0.056486Polymorphism
DBSNP ID NA
1 combination linked to IGLL1:p.Thr146Met OLI1718
1 disease linked to IGLL1:p.Thr146Met Common variable immunodeficiency
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