NM_001350748.2:c.537del

  1. Home
  2. NM_001350748.2:c.537del

HGVS Expressions

  • NG_053176.1:g.45400del
  • NM_001350748.2:c.537del
  • NP_001337677.1:p.Ile178_Trp179insTer

Associated Genes

Sodium Leak Channel, Nonselective
Back to search Result
Genomic Location

chr11:101376808

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1594759803

Clinvar

684711

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615419.12Egypt2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Bramswig et al. 2018
Download Table

Contributors

  • Pratibha Nair: 29.09.2020

Edit History

  • Pratibha Nair: 29.09.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.