Variants
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rs1593402927

  • Likely pathogenic

Your Genotype

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Description

Reference Allele

A


Alternative Allele

G

Chromosome

13


Location

39659362


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_020751.3(COG6):c.154-2A>G


Allele

G


Clinical Significance

Likely pathogenic

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