Details for GLI3:c.1028+15G>A,

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
4207962242040023
VARIANT EFFECT unknown
ANNOTATION FLAG manually_attributed
GENE GLI3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000168.6
CDNA CHANGE c.1028+15G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00420.00.00.01490.0060.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0039096.152e-058.678e-050.00069510.015440.023060.0013210.0039140.0004573

ESP
AAEA
0.00.0006977
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.964348Polymorphism
DBSNP ID rs116842918
1 combination linked to GLI3:c.1028+15G>A, OLI344
1 disease linked to GLI3:c.1028+15G>A, 46,XY disorder of sex development
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