rs751990617
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
The p.D1734N variant (also known as c.5200G>A), located in coding exon 40 of the TSC2 gene, results from a G to A substitution at nucleotide position 5200. The aspartic acid at codon 1734 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly 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
G
Alternative Allele
A
C
Chromosome
16
Location
2088266
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn)
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity