Variants
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rs1245934608

  • Conflicting interpretations of pathogenicity

Your Genotype

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Description

Reference Allele

G


Alternative Allele

A

Chromosome

16


Location

2088518


Variant Type

SNP

Genes

ClinVar

Name

NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr)


Allele

A


Clinical Significance

Conflicting interpretations of pathogenicity

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