NM_000492.3:c.3808G>A

HGVS Expressions

  • NG_016465.4:g.181745G>A
  • NM_000492.3:c.3808G>A
  • NP_000483.3:p.Asp1270Asn
  • NC_000007.14:g.117642528G>A
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Clinvar Clinical Significance

Drug Response, Likely Benign, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

7164

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.G.6.17Tunisia2NALikely PathogenicCystic FibrosisMessaoud et al. 2005 2 patients from unrelated families
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