rs1555939491
- Pathogenic
Your Genotype
Sign InDescription
The Q78X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). The variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we consider this variant to be pathogenic.
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
37983553
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.232C>T (p.Gln78Ter)
Allele
A
Clinical Significance
Pathogenic