Variants
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rs137854214

  • Conflicting interpretations of pathogenicity
  • Uncertain significance

Your Genotype

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Description

In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification;Subpopulation frequency in support of benign classification

This variant is associated with the following publications: (PMID: 22903760)

Reference Allele

C


Alternative Allele

A

T

Chromosome

16


Location

2088498


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)


Allele

T


Clinical Significance

Conflicting interpretations of pathogenicity

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