rs201916931
- Uncertain significance
Your Genotype
Sign InDescription
The p.Q1792K variant (also known as c.5374C>A), located in coding exon 41 of the TSC2 gene, results from a C to A substitution at nucleotide position 5374. The glutamine at codon 1792 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Reference Allele
C
Alternative Allele
A
Chromosome
16
Location
2088560
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5374C>A (p.Gln1792Lys)
Allele
A
Clinical Significance
Uncertain significance