NM_005859.5:c.307_308del

  1. Home
  2. NM_005859.5:c.307_308del

HGVS Expressions

  • NG_041813.1:g.5362TC[2]
  • NM_005859.5:c.307_308del
  • NP_005850.1:p.Ser103HisfsTer97
  • NC_000005.10:g.140114484TC[2]

Associated Genes

Purine-Rich Element-Binding Protein A
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

587782992

Clinvar

156404

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616158.1Saudi Arabia1PathogenicNeurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding DifficultiesMonies et al. 2017
616158.2Saudi Arabia1PathogenicNeurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding DifficultiesMonies et al. 2017
Download Table

Contributors

  • Asha Deepthi: 04.01.2025

Edit History

  • Asha Deepthi: 04.01.2025
Back to search Result
© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.