NM_000492.4:c.3469-20T>C

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HGVS Expressions

  • NG_016465.4:g.166719T>C
  • NM_000492.4:c.3469-20T>C
  • NP_000483.3:p.?
  • NC_000007.14:g.117627502T>C

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

373002889

Clinvar

7228

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619611.1United Arab Emirates1Likely BenignAlsamri et al. 2020; Alsamri et al. 2021 Patient had trisomy 21
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Contributors

  • Pratibha Nair: 15.02.2022

Edit History

  • Pratibha Nair: 09.11.2022
  • Pratibha Nair: 15.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.