rs140772793
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Reference Allele
C
Alternative Allele
G
Chromosome
2
Location
5693430
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_003108.4(SOX11):c.709C>G (p.Leu237Val)
Allele
G
Clinical Significance
Conflicting interpretations of pathogenicity