rs1555441169
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign)
Reference Allele
G
Alternative Allele
C
Chromosome
16
Location
2088458
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro)
Allele
C
Clinical Significance
Conflicting interpretations of pathogenicity