rs886039664
- Pathogenic
- Pathogenic
Your Genotype
Sign InDescription
The W142X pathogenic variant in the SOX10 gene has not been reported previously as a pathogenic variant nor 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. The W142X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret W142X as a pathogenic variant
Reference Allele
C
Alternative Allele
G
T
Chromosome
22
Location
37983360
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.425G>A (p.Trp142Ter)
Allele
T
Clinical Significance
Pathogenic
Name
NM_006941.4(SOX10):c.425G>C (p.Trp142Ser)
Allele
G
Clinical Significance
Pathogenic