Details for GLI3:c.1930G>A, p.Gly644Arg

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
4201210941972510
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GLI3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.1930G>A
PROTEIN CHANGE p.Gly644Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.570542Disease causing
DBSNP ID NA
1 combination linked to GLI3:c.1930G>A, p.Gly644Arg OLI1343
1 disease linked to GLI3:c.1930G>A, p.Gly644Arg Kallmann syndrome
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