Details for TACR3:c.1274G>A, p.Arg425Gln

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
104510963103589806
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TACR3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001059.3
CDNA CHANGE c.1274G>A
PROTEIN CHANGE p.Arg425Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.174e-056.152e-055.784e-050.00.00.07.925e-050.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.97497Polymorphism
DBSNP ID NA
1 combination linked to TACR3:c.1274G>A, p.Arg425Gln OLI1290
1 disease linked to TACR3:c.1274G>A, p.Arg425Gln Kallmann syndrome

Found any issues with the data on this page? Report this entry.