Details for CD40LG:c.655G>A, p.Gly219Arg

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
135741443136659284
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CD40LG
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000074.2
CDNA CHANGE c.655G>A
PROTEIN CHANGE p.Gly219Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00530.00.00.00.02220.0042

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.011080.0019760.0027030.003910.00.024770.016750.0079960.005328

ESP
AAEA
0.0026080.01709
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.055567Polymorphism
DBSNP ID NA
1 combination linked to CD40LG:c.655G>A, p.Gly219Arg OLI452
1 disease linked to CD40LG:c.655G>A, p.Gly219Arg X-linked lymphoproliferative disease
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