NM_000492.3:c.2657+5G>A

HGVS Expressions

  • NG_016465.4:g.142085G>A
  • NM_000492.3:c.2657+5G>A
  • NC_000007.14:g.117602868G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

38497

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.11Lebanon1NAPathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
219700.71Lebanon12.5PathogenicCystic FibrosisFarra et al, 2010 Compound heterozygous CF patient from fa...
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