Details for LRBA:c.1570G>A, p.Gly524Ser

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
151827481150906329
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE LRBA
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_006726.4
CDNA CHANGE c.1570G>A
PROTEIN CHANGE p.Gly524Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00023120.00.00.00029790.0029930.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.95036Disease causing
DBSNP ID rs776254567
1 combination linked to LRBA:c.1570G>A, p.Gly524Ser OLI025
1 disease linked to LRBA:c.1570G>A, p.Gly524Ser Primary hemophagocytic lymphohistiocytosis
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