rs372400283
- Uncertain significance
Your Genotype
Sign InDescription
The p.Asp64Val variant in SOX10 has not been previously reported in individuals with hearing loss, but has been identified in 1/53682 European chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computat ional prediction tools and conservation analysis do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Asp64Val variant is uncertain.
Reference Allele
T
Alternative Allele
A
C
G
Chromosome
22
Location
37983594
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.191A>T (p.Asp64Val)
Allele
A
Clinical Significance
Uncertain significance