rs758935474
- Likely benign
Your Genotype
Sign InDescription
p.Ser451Ser in exon 4 of SOX10: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 3/7628 of East As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org).
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
37973543
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.1353C>T (p.Ser451=)
Allele
A
Clinical Significance
Likely benign