NM_001267039.1:c.752del

HGVS Expressions

  • NG_032779.1:g.15320del
  • NM_001267039.1:c.752del
  • NP_001253968.1:p.Ser251ThrfsTer8
  • NC_000004.12:g.112647283del
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615071.1United Arab Emirates2Likely PathogenicAlazami SyndromeSaleh et al. 2021
© CAGS 2022. All rights reserved.