rs766963456
- Likely benign
Your Genotype
Sign InDescription
p.Pro239Pro 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 1/64150 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs766963456).
Reference Allele
G
Alternative Allele
C
T
Chromosome
22
Location
37974179
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.717C>G (p.Pro239=)
Allele
C
Clinical Significance
Likely benign