rs766093661
- Conflicting interpretations of pathogenicity
- Uncertain significance
Your Genotype
Sign InDescription
This variant is associated with the following publications: (PMID: 28191889)
The p.R1745H variant (also known as c.5234G>A), located in coding exon 40 of the TSC2 gene, results from a G to A substitution at nucleotide position 5234. The arginine at codon 1745 is replaced by histidine, an amino acid with highly 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
G
Alternative Allele
A
T
Chromosome
16
Location
2088300
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His)
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity
Name
NM_000548.5(TSC2):c.5234G>T (p.Arg1745Leu)
Allele
T
Clinical Significance
Uncertain significance