rs758450326
- Benign/Likely benign
- Uncertain significance
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)
This variant is associated with the following publications: (PMID: 28301460)
Reference Allele
G
Alternative Allele
A
C
Chromosome
16
Location
2088461
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr)
Allele
A
Clinical Significance
Benign/Likely benign
Name
NM_000548.5(TSC2):c.5275G>C (p.Ala1759Pro)
Allele
C
Clinical Significance
Uncertain significance