rs1596464243
- Uncertain significance
Your Genotype
Sign InDescription
The p.V1790G variant (also known as c.5369T>G), located in coding exon 41 of the TSC2 gene, results from a T to G substitution at nucleotide position 5369. The valine at codon 1790 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Reference Allele
T
Alternative Allele
G
Chromosome
16
Location
2088555
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5369T>G (p.Val1790Gly)
Allele
G
Clinical Significance
Uncertain significance