NM_000492.3:c.443T>C

HGVS Expressions

  • NG_016465.4:g.70285T>C
  • NM_000492.3:c.443T>C
  • NP_000483.3:p.Ile148Thr
  • NC_000007.14:g.117531068T>C
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

38850

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.48Tunisia1NAUncertain SignificanceCystic FibrosisMessaoud et al. 2005
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