NM_001130053.5:c.69del

HGVS Expressions

  • NM_001130053.5:c.69del
  • NP_001123525.3:p.Glu24SerfsTer26
  • NC_000008.11:g.143590014del
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
130592.G.1SyriaUncertain SignificanceReuter et al. 2017 Authors classified this gene variant as ...
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