NM_001029896.2:c.19C>T

HGVS Expressions

  • NG_033004.2:g.28094C>T
  • NM_001029896.2:c.19C>T
  • NP_001025067.1:p.Arg7Ter
  • NC_000023.11:g.49078077G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

280098

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300894.1United Arab Emirates1PathogenicNeurodegeneration with Brain Iron Accumulation 5Saleh et al. 2021 Father asymptomatic, but has mosaicism
300894.2United Arab Emirates1NAPathogenicNeurodegeneration with Brain Iron Accumulation 5Mahfouz et al. 2020
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