Details for TAP1:p.Glu46Ter

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
3282145832853681
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TAP1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Glu46Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00011740.00.00.00.0015460.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.049009None
DBSNP ID NA
1 combination linked to TAP1:p.Glu46Ter OLI1715
1 disease linked to TAP1:p.Glu46Ter Common variable immunodeficiency
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