NM_147127.5:c.3870_3893dup

  1. Home
  2. NM_147127.5:c.3870_3893dup

HGVS Expressions

  • NG_015821.1:g.151644_151667dup
  • NM_147127.5:c.3870_3893dup
  • NP_667338.3:p.Lys1293_Lys1300dup
  • NC_000004.12:g.5562882_5562905dup

Associated Genes

EvC Ciliary Complex Subunit 2
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

730882232

Clinvar

183329

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
225500.7Saudi Arabia2NALikely PathogenicEVC2 Associated Meckel Gruber SyndromeAlazami et al. 2015; Maddirevula et al. 2018
Download Table

Contributors

  • Asha Deepthi: 18.11.2021

Edit History

  • Pratibha Nair: 18.05.2023
  • Asha Deepthi: 18.11.2021
Back to search Result
© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.