Details for GLI2:c.845+10G>A,

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
121726501120968925
VARIANT EFFECT unknown
ANNOTATION FLAG manually_attributed
GENE GLI2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_005270.5
CDNA CHANGE c.845+10G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.0020.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00031186.383e-050.00.0029960.00032920.00.00019770.00016640.0005243

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.11627Polymorphism
DBSNP ID rs199673018
1 combination linked to GLI2:c.845+10G>A, OLI344
1 disease linked to GLI2:c.845+10G>A, 46,XY disorder of sex development
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