rs989487316
- Benign/Likely benign
Your Genotype
Sign InDescription
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Reference Allele
A
Alternative Allele
C
Chromosome
16
Location
2088524
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_000548.5(TSC2):c.5338A>C (p.Thr1780Pro)
Allele
C
Clinical Significance
Benign/Likely benign