Details for SRPX2:c.517G>A,

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
99919932100664935
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SRPX2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_014467.3
CDNA CHANGE c.517G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.213e-050.07.326e-050.00.00.02.477e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.673903Polymorphism
DBSNP ID NA
1 combination linked to SRPX2:c.517G>A, OLI1331
1 disease linked to SRPX2:c.517G>A, Primary immunodeficiency

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