NM_000492.3:c.523A>G

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HGVS Expressions

  • NG_016465.4:g.73526A>G
  • NM_000492.3:c.523A>G
  • NP_000483.3:p.Ile175Val
  • NC_000007.14:g.117534309A>G

Associated Genes

Cystic Fibrosis Transmembrane Conductance Regulator
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397508744

Clinvar

53986

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.75United Arab Emirates2Likely PathogenicCystic FibrosisAlsamri et al. 2020 Mother's cousin affected with cystic fib...
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Contributors

  • Pratibha Nair: 21.02.2022

Edit History

  • Pratibha Nair: 21.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.