NM_000492.3:c.2015_2017del

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HGVS Expressions

  • NG_016465.4:g.131399_131401del
  • NM_000492.3:c.2015_2017del
  • NP_000483.3:p.Glu672del
  • NC_000007.14:g.117592182_117592184del

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

397508330

Clinvar

439062

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.20Lebanon1NALikely PathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
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Contributors

    Edit History

    • Asha Deepthi: 09.08.2022
    • 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.