Details for STAT1:c.541+50T>C,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
191864302190999576
VARIANT EFFECT None
ANNOTATION FLAG None
GENE STAT1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_007315.4
CDNA CHANGE c.541+50T>C
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0050.00080.01150.00.01290.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0089310.0026140.007770.0095135.485e-050.0028860.014150.011020.003326

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone-0.283031Polymorphism
DBSNP ID NA
1 combination linked to STAT1:c.541+50T>C, OLI1333
1 disease linked to STAT1:c.541+50T>C, Primary immunodeficiency
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