rs1569171175
- Pathogenic
Your Genotype
Sign InDescription
The Q125X nonsense variant has not been published as a germline variant to our knowledge, and has only been observed as a somatic variant in a melanoma sample (Cronin et al., 2009). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
37983412
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.373C>T (p.Gln125Ter)
Allele
A
Clinical Significance
Pathogenic