rs137854214
- Conflicting interpretations of pathogenicity
- Uncertain significance
Your Genotype
Sign InDescription
In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification;Subpopulation frequency in support of benign classification
This variant is associated with the following publications: (PMID: 22903760)
Reference Allele
C
Alternative Allele
A
T
Chromosome
16
Location
2088498
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)
Allele
T
Clinical Significance
Conflicting interpretations of pathogenicity
Name
NM_000548.5(TSC2):c.5312C>A (p.Pro1771Gln)
Allele
A
Clinical Significance
Uncertain significance