Details for TGIF1:c.239dupC, p.Ala80fs

CHROMOSOME 18
GENOMIC COORDINATES
hg19hg38
34574183457420
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TGIF1
REFERENCE ALLELE A
ALTERNATE ALLELE AA
TRANSCRIPT NM_170695
CDNA CHANGE c.239dupC
PROTEIN CHANGE p.Ala80fs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.083771Disease causing
DBSNP ID NA
1 combination linked to TGIF1:c.239dupC, p.Ala80fs OLI1512
1 disease linked to TGIF1:c.239dupC, p.Ala80fs 46,XY disorder of sex development
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