NM_000492.3:c.11C>A

HGVS Expressions

  • NG_016465.4:g.19322C>A
  • NM_000492.3:c.11C>A
  • NP_000483.3:p.Ser4Ter
  • NC_000007.14:g.117480105C>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

53211

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.8Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.11Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.G.13.4Lebanon30.063PathogenicCystic FibrosisFarra et al, 2010 Mutation identified in 7% of 44 alleles ...
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