Variants
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rs137854219

  • Pathogenic
  • Uncertain significance

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Description

The W1740X nonsense variant in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (TSC) (TSC2 LOVD). Additionally, a different nucleotide substitution, c.5220 G>A, resulting in the same nonsense variant has also been reported in association with TSC (Roberts et al., 2002). The W1740X variant is predicted to cause loss of normal protein function through protein truncation as the last 68 amino acids of the tuberin protein are lost. Therefore, the presence of W1740X is consistent with a diagnosis of TSC

Reference Allele

G


Alternative Allele

A

C

Chromosome

16


Location

2088285


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter)


Allele

A


Clinical Significance

Pathogenic

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