rs774007232
- Pathogenic
Your Genotype
Sign InDescription
The R669X nonsense variant in the POLR3A gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the R669X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R669X as a pathogenic variant.
Reference Allele
G
Alternative Allele
A
T
Chromosome
10
Location
78007771
Variant Type
SNP
Genes
ClinVar
Name
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)
Allele
A
Clinical Significance
Pathogenic