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
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Genomic Location

chr7:117509089

Clinical Significance

Drug Response

Variant Type

Substitution

Clinvar

196277

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
219700.G.6.18Tunisia2Drug ResponseCystic FibrosisMessaoud et al. 2005 2 patients from unrelated families
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