Variants
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rs794726950

  • Pathogenic

Your Genotype

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Description

Reference Allele

A


Alternative Allele

T

Chromosome

13


Location

39655838


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_020751.3(COG6):c.112A>T (p.Lys38Ter)


Allele

T


Clinical Significance

Pathogenic

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