Details for GLI2:c.4198G>T, p.Gly1400Cys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
121747688120990112
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GLI2
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_005270.4
CDNA CHANGE c.4198G>T
PROTEIN CHANGE p.Gly1400Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00010756.527e-052.926e-050.00.00.00.00022050.00.0

ESP
AAEA
0.00.0005817
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.041912Polymorphism
DBSNP ID rs143914758
1 combination linked to GLI2:c.4198G>T, p.Gly1400Cys OLI599
1 disease linked to GLI2:c.4198G>T, p.Gly1400Cys Disorder of sex development
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