NM_000528.3:c.2356-2A>G

HGVS Expressions

  • NG_008318.1:g.22560A>G
  • NM_000528.3:c.2356-2A>G
  • NP_000519.2:p.?
  • NC_000019.10:g.12649218T>C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

419533

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248500.4United Arab Emirates2PathogenicMannosidosis, Alpha B, LysosomalSaleh et al. 2021 Affected sister
248500.6United Arab Emirates2Likely PathogenicMannosidosis, Alpha B, LysosomalBertoli-Avella et al. 2021
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