NM_000492.4:c.601G>A

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HGVS Expressions

  • NG_016465.4:g.74486G>A
  • NM_000492.4:c.601G>A
  • NP_000483.3:p.Val201Met
  • NC_000007.14:g.117535269G>A

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

138338446

Clinvar

54022

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277180.5Tunisia1NALikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofMessaoud et al. 2005
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Contributors

    Edit History

    • Asha Deepthi: 17.03.2021
    • Asha Deepthi: 27.10.2020
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    © CAGS 2024. All rights reserved.