NM_000492.3:c.1624G>T

HGVS Expressions

  • NG_016465.4:g.126995G>T
  • NM_000492.3:c.1624G>T
  • NP_000483.3:p.Gly542Ter
  • NC_000007.14:g.117587778G>T
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Clinvar Clinical Significance

Drug Response, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

7115

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.2Bahrain1NAPathogenicCystic FibrosisEskandarani, 2002 Compound heterozygous patient
219700.70Lebanon11.3PathogenicCystic FibrosisFarra et al, 2010 Compound heterozygous CF patient from fa...
219700.G.6.3Tunisia34NAPathogenicCystic FibrosisMessaoud et al. 2005 17 patients from unrelated families
219700.G.6.4Tunisia9NAPathogenicCystic FibrosisMessaoud et al. 2005 9 patients from unrelated families
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