NM_000492.3:c.274-2A>G

HGVS Expressions

  • NG_016465.4:g.70114A>G
  • NM_000492.3:c.274-2A>G
  • NP_000483.3:p.?
  • NC_000007.14:g.117530897A>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

53556

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.55Saudi Arabia2NAPathogenicCystic FibrosisEl-Harith et al. 1997 Patient number '4075' in the publication
219700.G.14.5United Arab EmiratesNANAPathogenicCystic FibrosisShafiq et al.2021 Mutations reported with a population fre...
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