NM_000492.3:c.2856G>C

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HGVS Expressions

  • NG_016465.4:g.142947G>C
  • NM_000492.3:c.2856G>C
  • NP_000483.3:p.Met952Ile
  • NC_000007.14:g.117603730G>C

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

151048781

Clinvar

53580

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.18Lebanon1NALikely PathogenicCystic FibrosisDesgeorges et al. 1997 Compound heterozygous patient from famil...
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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.