NM_000492.3:c.3529A>T

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HGVS Expressions

  • NG_016465.4:g.166799A>T
  • NM_000492.3:c.3529A>T
  • NP_000483.3:p.Lys1177Ter
  • NC_000007.14:g.117627582A>T

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397508578

Clinvar

53766

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.G.1.1Bahrain2NALikely PathogenicCystic FibrosisEskandarani, 2002 2 compound heterozygous patients from a ...
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Contributors

    Edit History

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