NM_000492.3:c.4251del

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HGVS Expressions

  • NG_016465.4:g.206133del
  • NM_000492.3:c.4251del
  • NP_000483.3:p.Glu1418fs
  • NC_000007.14:g.117666916del

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

397508706

Clinvar

53933

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.67Lebanon1NAPathogenicCystic FibrosisEl-Rifai et al, 2011 Patient's mother has protein S deficienc...
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Contributors

  • Asha Deepthi: 29.04.2020

Edit History

  • Asha Deepthi: 21.03.2021
  • Sayeeda Hana: 04.10.2020
  • Asha Deepthi: 30.04.2020
  • Asha Deepthi: 29.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.