Details for GLI2:c.2294-4G>A,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
121745780120988204
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GLI2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_005270
CDNA CHANGE c.2294-4G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.0010.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00022610.00.00054750.06.553e-050.01.966e-050.00056860.0009812

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone-0.183201Polymorphism
DBSNP ID NA
1 combination linked to GLI2:c.2294-4G>A, OLI1525
1 disease linked to GLI2:c.2294-4G>A, 46,XY disorder of sex development
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