rs763019569
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
p.Ser24Ser in exon 2 of SOX10: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2/454 African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs763019569).
Reference Allele
G
Alternative Allele
A
T
Chromosome
22
Location
37983713
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.72C>T (p.Ser24=)
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity