NM_004463.2:c.53del

  1. Home
  2. NM_004463.2:c.53del

HGVS Expressions

  • NG_008054.1:g.5787del
  • NM_004463.2:c.53del
  • NP_004454.2:p.Pro18ArgfsTer106
  • NC_000023.11:g.54495382del

Associated Genes

FYVE, RhoGEF, and PH Domain-Containing Protein 1
Back to search Result
CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
305400.1.1United Arab Emirates1Likely PathogenicAarskog-Scott SyndromeHamzeh et al. 2017
305400.1.2United Arab Emirates1Likely PathogenicAarskog-Scott SyndromeHamzeh et al. 2017 Brother of 305400.1.1
305400.1.3United Arab Emirates1PathogenicHamzeh et al. 2017 Mother of 305400.1.1
Download Table

Contributors

  • Sayeeda Hana: 17.08.2020

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 17.08.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.