Details for GLI2:c.4333C>T, p.Leu1445Phe

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
121747823120990247
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GLI2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_005270.4
CDNA CHANGE c.4333C>T
PROTEIN CHANGE p.Leu1445Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0070.00.04760.00.0010.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0097010.00061640.05459.932e-050.00.0063760.002450.0089750.002254

ESP
AAEA
0.0002270.001047
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.230653Polymorphism
DBSNP ID rs146207623
1 combination linked to GLI2:c.4333C>T, p.Leu1445Phe OLI575
1 disease linked to GLI2:c.4333C>T, p.Leu1445Phe Disorder of sex development
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