rs200970285
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
p.Ser415Ser in exon 4 of SOX10: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.01% (5/66018) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs200970285).
Reference Allele
C
Alternative Allele
T
Chromosome
22
Location
37973651
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.1245G>A (p.Ser415=)
Allele
T
Clinical Significance
Conflicting interpretations of pathogenicity