Details for TACR3:c.1345G>A, p.Ala449Thr

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
104510892103589735
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TACR3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001059.2
CDNA CHANGE c.1345G>A
PROTEIN CHANGE p.Ala449Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00620.00.00720.01880.0070.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0053160.00079980.0017360.00.020520.0022180.0070680.0050590.0001307

ESP
AAEA
0.0015890.007791
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.452221Polymorphism
DBSNP ID rs17033889
2 combinations linked to TACR3:c.1345G>A, p.Ala449Thr OLI393; OLI395
2 diseases linked to TACR3:c.1345G>A, p.Ala449Thr Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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