NM_000492.3:c.3700A>G

HGVS Expressions

  • NG_016465.4:g.166970A>G
  • NM_000492.3:c.3700A>G
  • NP_000483.3:p.Ile1234Val
  • NC_000007.14:g.117627753A>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

7215

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.42Qatar2NAPathogenicCystic FibrosisWahab, 2003 Patient is of Arab descent
219700.43Qatar2NAPathogenicCystic FibrosisAbdul Wahab et al. 2005 Patient is of Arab descent
219700.64Saudi Arabia2NAPathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF25' in the publication
219700.65Saudi Arabia2NAPathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF28' in the publication
219700.G.2.5KuwaitNANAPathogenicCystic FibrosisSamilchuk, 2005 Unknown number of patients
219700.G.4Qatar72NAPathogenicCystic FibrosisWahab et al. 2004b 36 patients from 20 families. Patients' ...
219700.G.5Qatar80NAPathogenicCystic FibrosisAbdel Rahman et al. 2006 40 patients from a large Arab kindred fa...
219700.G.9.1Saudi Arabia4NAPathogenicCystic FibrosisBanjar, 2004; Banjar and Sakati, 2002 Two siblings comorbid for cystic fibrosi...
219700.G.14.5United Arab EmiratesNANAPathogenicCystic FibrosisShafiq et al.2021 Mutations reported with a population fre...
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