NM_153717.3:c.101dup

  1. Home
  2. NM_153717.3:c.101dup

HGVS Expressions

  • NG_008843.1:g.5285dup
  • NM_153717.3:c.101dup
  • NP_714928.1:p.Ala36ArgfsTer37
  • NC_000004.12:g.5711481dup

Associated Genes

EvC ciliary complex subunit 1
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
225500.6Saudi Arabia2NALikely PathogenicEllis-van Creveld SyndromeMaddirevula et al. 2018
Download Table

Contributors

  • Asha Deepthi: 18.11.2021

Edit History

  • Rahila Mir: 08.02.2022
  • Asha Deepthi: 18.11.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.