Details for TGIF1:c.195G>C, p.Trp65Cys

CHROMOSOME 18
GENOMIC COORDINATES
hg19hg38
34573743457376
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TGIF1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_170695
CDNA CHANGE c.195G>C
PROTEIN CHANGE p.Trp65Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.615537Disease causing
DBSNP ID NA
1 combination linked to TGIF1:c.195G>C, p.Trp65Cys OLI1544
1 disease linked to TGIF1:c.195G>C, p.Trp65Cys 46,XY disorder of sex development
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