rs750566714
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32853555, 21898658, 31152317)
This SOX10 c.482G>A (p.R161H) variant has been reported previously in one individual with Waardenburg syndrome 2 (PMID: 21898658).
Reference Allele
C
Alternative Allele
T
Chromosome
22
Location
37978082
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
Allele
T
Clinical Significance
Conflicting interpretations of pathogenicity