Details for GLI3:c.2179G>A, p.Gly727Arg

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
4200744641967848
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GLI3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000168
CDNA CHANGE c.2179G>A
PROTEIN CHANGE p.Gly727Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00260.00080.00290.0010.0070.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0052690.00061520.0014740.0030750.00010870.0076220.0075510.0052120.005716

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.932292Disease causing
DBSNP ID NA
1 combination linked to GLI3:c.2179G>A, p.Gly727Arg OLI1576
1 disease linked to GLI3:c.2179G>A, p.Gly727Arg Syndrome with 46,XY disorder of sex development
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