NM_001845.5:c.3880_3881del

HGVS Expressions

  • NG_011544.2:g.144923_144924del
  • NM_001845.5:c.3880_3881del
  • NP_001836.3:p.Ile1294TrpfsTer10
  • NC_000013.11:g.110167227_110167228del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
175780.1United Arab Emirates1Likely PathogenicBrain Small Vessel Disease 1 with or without Ocular AnomaliesSaleh et al. 2021 de novo mutation
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