NM_000492.3:c.1647T>G

HGVS Expressions

  • NG_016465.4:g.127018T>G
  • NM_000492.3:c.1647T>G
  • NP_000483.3:p.Ser549Arg
  • NC_000007.14:g.117587801T>G
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Clinvar Clinical Significance

Drug Response, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

Variant Type

Substitution

Clinvar

40190

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.1.1United Arab Emirates1Uncertain SignificanceAlsamri et al. 2020; Alsamri et al. 2021 Several variants could be contributing t...
219700.25Oman2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D1' in the publication
219700.26United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D2' in the publication
219700.27United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D3' in the publication
219700.28United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D4' in the publication
219700.29United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D5' in the publication
219700.30United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D6' in the publication
219700.31United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D7' in the publication
219700.32United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D8' in the publication
219700.33United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D9' in the publication
219700.34United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D10' in the publication
219700.35United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D11' in the publication
219700.36United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D12' in the publication
219700.37United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D13' in the publication
219700.38United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D14' in the publication
219700.39United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D15' in the publication
219700.40United Arab Emirates2NAPathogenicCystic FibrosisRomey et al. 1999 Patient 'D16' in the publication
219700.53Saudi Arabia1NAPathogenicCystic FibrosisBanjar, 2002; Banjar, 2004 Patient comorbid for cystic fibrosis (co...
219700.76United Arab Emirates1NALikely PathogenicCystic FibrosisFrossard et al. 2000b Patient had milder form of cystic fibros...
219700.G.3.1Oman22NAPathogenicCystic FibrosisFrossard et al. 2000a 11 patients from 10 families of Omani Be...
219700.G.7.1United Arab Emirates30NAPathogenicCystic FibrosisFrossard et al. 1998 15 patients from 10 Emirati families of ...
219700.G.8.1United Arab Emirates4NAFrossard et al. 1999 4 unaffected carriers in a sample popula...
219700.G.14.1United Arab Emirates21NAPathogenicCystic FibrosisShafiq et al.2021 11 patients (10 homozygous and 1 heteroz...
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