Variants
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rs121908687

  • Pathogenic/Likely pathogenic

Your Genotype

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Description

This variant has been previously reported as disease-causing and was found once in our laboratory homozygous in a 24-year-old male with adult-onset progressive lower limb weakness/stiffness, spastic gait, hyperthyroidism, diffuse brain atrophy, simialrly affected brother (not tested).

Reference Allele

G


Alternative Allele

A

Chromosome

22


Location

38112541


Variant Type

SNP

Genes

ClinVar

Name

NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)


Allele

A


Clinical Significance

Pathogenic/Likely pathogenic

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