Details for TGIF1:c.25T>C, p.Ser9Pro

CHROMOSOME 18
GENOMIC COORDINATES
hg19hg38
34564203456422
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TGIF1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_170695
CDNA CHANGE c.25T>C
PROTEIN CHANGE p.Ser9Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.353257Disease causing
DBSNP ID NA
1 combination linked to TGIF1:c.25T>C, p.Ser9Pro OLI1534
1 disease linked to TGIF1:c.25T>C, p.Ser9Pro 46,XY disorder of sex development

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