Variants
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rs1596464243

  • Uncertain significance

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Description

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

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5369T>G (p.Val1790Gly)


Allele

G


Clinical Significance

Uncertain significance

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