Details for GLI2:c.553G>T, p.Gly185Cys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
121712916120955340
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GLI2
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.553G>T
PROTEIN CHANGE p.Gly185Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.526353Polymorphism
DBSNP ID NA
1 combination linked to GLI2:c.553G>T, p.Gly185Cys OLI1169
1 disease linked to GLI2:c.553G>T, p.Gly185Cys Kallmann syndrome
Found any issues with the data on this page? Report this entry.