NM_004937.3:c.18_21del

  1. Home
  2. NM_004937.3:c.18_21del

HGVS Expressions

  • NG_012489.2:g.8757_8760del
  • NM_004937.3:c.18_21del
  • NP_004928.2:p.Thr7fs

Associated Genes

Cystinosin
Back to search Result
Genomic Location

chr17:3640224-3640227

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786204501

Clinvar

188834

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219800.1.1Arab2PathogenicCystinosis, NephropathicShahkarami et al. 2013 Patient 'P4' in the publication
219800.1.2Arab1PathogenicShahkarami et al. 2013 Brother of patient 'P4' in the publicati...
Download Table

Contributors

    Edit History

    • Sayeeda Hana: 01.06.2021
    • Sayeeda Hana: 05.10.2020
    • Asha Deepthi: 16.07.2020
    • Asha Deepthi: 15.07.2020
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.