rs200475773
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Reference Allele
C
Alternative Allele
T
Chromosome
22
Location
37977990
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.574G>A (p.Gly192Ser)
Allele
T
Clinical Significance
Conflicting interpretations of pathogenicity