NM_003900.4:c.311_312del

HGVS Expressions

  • NG_011342.1:g.22478AG[1]
  • NM_003900.4:c.311_312del
  • NP_003891.1:p.Glu104ValfsTer48
  • NC_000005.10:g.179823867_179823868del

Associated Genes

Sequestosome 1
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Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

265781

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
617145.1United Arab Emirates2PathogenicNeurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-OnsetSaleh et al. 2021 Family history of speech delay, autism a...
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