Variants
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rs45517410

  • Pathogenic
  • Benign/Likely benign

Your Genotype

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Description

Reference Allele

C


Alternative Allele

A

T

Chromosome

16


Location

2088274


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter)


Allele

A


Clinical Significance

Pathogenic

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