NM_000282.4:c.1598_1601del

HGVS Expressions

  • NG_008768.1:g.256132_256135del
  • NM_000282.4:c.1598_1601del
  • NP_000273.2:p.Phe533TrpfsTer5
  • NC_000013.11:g.100340214_100340217del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

Clinvar

1070049

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606054.Gr.1United Arab Emirates4PathogenicPropionic AcidemiaAl-Shamsi et al. 2014 Two patients with propionyl acidemia
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