NM_000528.3:c.2119C>T

HGVS Expressions

  • NG_008318.1:g.21628C>T
  • NM_000528.3:c.2119C>T
  • NP_000519.2:p.Gln707Ter
  • NC_000019.10:g.12650150G>A
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CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248500.3United Arab Emirates2Likely PathogenicMannosidosis, Alpha B, LysosomalBen-Rebeh et al. 2012
248500.G.1United Arab Emirates6PathogenicMannosidosis, Alpha B, LysosomalAl-Jasmi et al. 2013 3 patients belonging to an Emirati tribe
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