Details for GLI3:c.1954C>A, p.Pro652Thr

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
4201208541972486
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GLI3
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.1954C>A
PROTEIN CHANGE p.Pro652Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.194e-050.00.00.00.00.00.00.09.799e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.867187Polymorphism
DBSNP ID NA
1 combination linked to GLI3:c.1954C>A, p.Pro652Thr OLI1321
1 disease linked to GLI3:c.1954C>A, p.Pro652Thr Kallmann syndrome
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