Details for LRBA:p.Ile2744Thr

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
151203684150282532
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LRBA
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ile2744Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00014320.00.00.00.0018480.08.795e-060.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.412675Polymorphism
DBSNP ID NA
1 combination linked to LRBA:p.Ile2744Thr OLI1713
1 disease linked to LRBA:p.Ile2744Thr Common variable immunodeficiency

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