Details for GLI3:c.1029-6G>A,

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
4206601742026418
VARIANT EFFECT splicing
ANNOTATION FLAG automatically_attributed_and_verified
GENE GLI3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000168.5
CDNA CHANGE c.1029-6G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.998e-050.02.898e-050.00.0001090.01.768e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone-0.863461Polymorphism
DBSNP ID rs748670269
1 combination linked to GLI3:c.1029-6G>A, OLI602
1 disease linked to GLI3:c.1029-6G>A, Disorder of sex development
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