rs779933527
- Uncertain significance
Your Genotype
Sign InDescription
A heterozygous missense variation in exon 3 of the SOX10 gene that results in the amino acid substitution of Glutamine for Arginine at codon 215 was detected. The observed variant c.644G>A (p.Arg215Gln) has not been reported in the 1000 genomes and has a minor allele frequency of 0.007% in the gnomAD database. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
Reference Allele
C
Alternative Allele
T
Chromosome
22
Location
37977920
Variant Type
SNP
ClinVar
Name
NM_006941.4(SOX10):c.644G>A (p.Arg215Gln)
Allele
T
Clinical Significance
Uncertain significance