NM_005359.5:c.116_125del

  1. Home
  2. NM_005359.5:c.116_125del

HGVS Expressions

  • NG_013013.2:g.84123_84132del
  • NM_005359.5:c.116_125del
  • NP_005350.1:p.Ala39ValfsTer3
  • NC_000018.10:g.51047162_51047171del

Associated Genes

SMAD Family Member 4
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
139210.1United Arab Emirates1Likely PathogenicMyhre SyndromeSaleh et al. 2021 de novo mutation
Download Table

Contributors

  • Pratibha Nair: 09.09.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 09.09.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.