rs773196371
- Likely benign
Your Genotype
Sign InDescription
p.His283His 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 1/8644 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs773196371).
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
37974047
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.849C>T (p.His283=)
Allele
A
Clinical Significance
Likely benign