NM_001256545.2:c.1557del

HGVS Expressions

  • NG_032072.2:g.134411del
  • NM_001256545.2:c.1557del
  • NP_001243474.1:p.Trp520GlyfsTer17
  • NC_000005.10:g.127420174del
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Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

374300

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
614399.1United Arab Emirates2Likely PathogenicMyopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-OnsetAlabdullatif et al. 2017
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