rs1569169273
- Pathogenic
Your Genotype
Sign InDescription
The K172X nonsense variant in the SOX10 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population databases (Lek et al., 2016). The K172X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. In summary, we interpret this variant as pathogenic.
Reference Allele
T
Alternative Allele
A
Chromosome
22
Location
37978050
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.514A>T (p.Lys172Ter)
Allele
A
Clinical Significance
Pathogenic