Details for POLR3A:c.3734G>A, p.Arg1245Gln

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
7974193777982179
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE POLR3A
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_007055.3
CDNA CHANGE c.3734G>A
PROTEIN CHANGE p.Arg1245Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00140.00.0040.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0015240.000740.00026049.986e-050.00065270.00073920.0028340.0011460.000196

ESP
AAEA
0.0002270.002674
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.556137Polymorphism
DBSNP ID rs143422889
2 combinations linked to POLR3A:c.3734G>A, p.Arg1245Gln OLI1396; OLI813
2 diseases linked to POLR3A:c.3734G>A, p.Arg1245Gln Hypogonadotropic hypogonadism with absent puberty phenotype; Kallmann syndrome
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