rs1339336077
- Uncertain significance
Your Genotype
Sign InDescription
The p.Ser24Tyr variant in SOX10 has not been previously reported in individuals with Waardenburg syndrome and was absent from large population studies. Computat ional prediction tools and conservation analyses do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Ser24Tyr variant is uncertain. ACMG/AMP criteria applied: PM2
Reference Allele
G
Alternative Allele
T
Chromosome
22
Location
37983714
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.71C>A (p.Ser24Tyr)
Allele
T
Clinical Significance
Uncertain significance