NM_000492.3:c.220C>T

HGVS Expressions

  • NG_016465.4:g.48306C>T
  • NM_000492.3:c.220C>T
  • NP_000483.3:p.Arg74Trp
  • NC_000007.14:g.117509089C>T
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Clinvar Clinical Significance

Drug Response, Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

196277

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.G.6.18Tunisia2NALikely PathogenicCystic FibrosisMessaoud et al. 2005 2 patients from unrelated families
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