rs147817756
- Likely benign
Your Genotype
Sign InDescription
p.Thr375Thr 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 59/65842 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs147817756).
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
37973771
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.1125C>T (p.Thr375=)
Allele
A
Clinical Significance
Likely benign