rs367703283
- Conflicting interpretations of pathogenicity
- Uncertain significance
Your Genotype
Sign InDescription
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Reference Allele
T
Alternative Allele
C
G
Chromosome
16
Location
2088550
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=)
Allele
C
Clinical Significance
Conflicting interpretations of pathogenicity
Name
NM_000548.5(TSC2):c.5364T>G (p.Tyr1788Ter)
Allele
G
Clinical Significance
Uncertain significance