NM_006420.3:c.656dup

  1. Home
  2. NM_006420.3:c.656dup

HGVS Expressions

  • NG_011490.2:g.36871dup
  • NM_006420.3:c.656dup
  • NP_006411.2:p.Val220CysfsTer35
  • NC_000020.11:g.48953608dup

Associated Genes

ADP-Ribosylation Factor Guanine Nucleotide Exchange Factor 2
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

730882200

Clinvar

183282

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608097.2Saudi Arabia2Likely PathogenicPeriventricular Heterotopia With Microcephaly, Autosomal RecessiveAlazami et al. 2015
Download Table

Contributors

  • Pratibha Nair: 11.05.2023

Edit History

  • Pratibha Nair: 11.05.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.