Details for KDM6A:c.1402T>C,

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
4492064145061396
VARIANT EFFECT None
ANNOTATION FLAG None
GENE KDM6A
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_021140.4
CDNA CHANGE c.1402T>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00051850.03.734e-050.00.00.00095270.00094890.00022790.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.564971Polymorphism
DBSNP ID NA
1 combination linked to KDM6A:c.1402T>C, OLI1328
1 disease linked to KDM6A:c.1402T>C, Primary immunodeficiency
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