Details for GLI2:c.445A>G, p.Ser149Gly

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
121709009120951433
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GLI2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_005270
CDNA CHANGE c.445A>G
PROTEIN CHANGE p.Ser149Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.822867Disease causing
DBSNP ID NA
1 combination linked to GLI2:c.445A>G, p.Ser149Gly OLI1537
1 disease linked to GLI2:c.445A>G, p.Ser149Gly 46,XY disorder of sex development
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