Details for GLI3:c.1843A>T, p.Thr615Ser

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
4201219641972597
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GLI3
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_000168.5
CDNA CHANGE c.1843A>T
PROTEIN CHANGE p.Thr615Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.89e-050.00.00.00.00092450.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.621374Polymorphism
DBSNP ID rs200913720
1 combination linked to GLI3:c.1843A>T, p.Thr615Ser OLI346
1 disease linked to GLI3:c.1843A>T, p.Thr615Ser 46,XY disorder of sex development
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