NM_000492.3:c.1418delG

HGVS Expressions

  • NG_016465.4:g.98706delG
  • NM_000492.3:c.1418delG
  • NP_000483.3:p.Gly473fs
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Genomic Location

chr7:117559489

Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

53251

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
219700.56Saudi Arabia1PathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF30' in the publication...
219700.57Saudi Arabia1PathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF32' in the publication...
219700.58Saudi Arabia1PathogenicCystic FibrosisEl-Harith et al. 1997 Patient number 'CF40' in the publication...
219700.G.2.4KuwaitPathogenicCystic FibrosisSamilchuk, 2005 Unknown number of patients
219700.G.9.2Saudi Arabia4PathogenicCystic FibrosisBanjar, 2004 Twins comorbid for cystic fibrosis and c...
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