NM_000492.4:c.3540del

HGVS Expressions

  • NG_016465.4:g.166810del
  • NM_000492.4:c.3540del
  • NP_000483.3:p.Lys1180AsnfsTer12
  • NC_000007.14:g.117627593del
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

53769

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.G.14.5United Arab EmiratesNANAPathogenicCystic FibrosisShafiq et al.2021 Mutations reported with a population fre...
© CAGS 2024. All rights reserved.