rs780122780
- Likely pathogenic
Your Genotype
Sign InDescription
This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Reference Allele
G
Alternative Allele
C
T
Chromosome
2
Location
5693421
Variant Type
SNP
Genes
ClinVar
Name
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)
Allele
T
Clinical Significance
Likely pathogenic