NM_003900.5:c.286C>T

HGVS Expressions

  • NG_011342.1:g.21651C>T
  • NM_003900.5:c.286C>T
  • NP_003891.1:p.Arg96Ter
  • NC_000005.10:g.179823038C>T

Associated Genes

Sequestosome 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

265782

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617145.3.1Syria2NAPathogenicNeurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-OnsetHaack et al. 2016 Patient from 'family 4' in the publicati...
617145.3.2Syria2NAPathogenicNeurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Childhood-OnsetHaack et al. 2016 Brother of 617145.3.1; patient had mild ...
617145.3.GSyria4NAHaack et al. 2016 Relatives of 617145.3.1 (parents, 1 sist...
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