Details for TACR3:c.799T>C, p.Tyr267His

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
104577440103656283
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TACR3
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_001059.3
CDNA CHANGE c.799T>C
PROTEIN CHANGE p.Tyr267His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.038306Disease causing
DBSNP ID NA
1 combination linked to TACR3:c.799T>C, p.Tyr267His OLI1282
1 disease linked to TACR3:c.799T>C, p.Tyr267His Normosmic congenital hypogonadotropic hypogonadism

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