Details for TACR3:c.1091G>A, p.Arg364Gln

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
104511146103589989
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TACR3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001059.2
CDNA CHANGE c.1091G>A
PROTEIN CHANGE p.Arg364Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00010840.00074068.71e-050.00.04.637e-056.249e-050.00016429.803e-05

ESP
AAEA
0.0002270.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.3825Disease causing
DBSNP ID rs150288991
1 combination linked to TACR3:c.1091G>A, p.Arg364Gln OLI392
1 disease linked to TACR3:c.1091G>A, p.Arg364Gln Kallmann syndrome
Found any issues with the data on this page? Report this entry.