Details for TAC3:c.52A>C, p.Ser18Arg

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
5740953057015746
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TAC3
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_013251.4
CDNA CHANGE c.52A>C
PROTEIN CHANGE p.Ser18Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.500028Polymorphism
DBSNP ID NA
1 combination linked to TAC3:c.52A>C, p.Ser18Arg OLI1274
1 disease linked to TAC3:c.52A>C, p.Ser18Arg Normosmic congenital hypogonadotropic hypogonadism
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