NM_004937.3:c.1015G>A

  1. Home
  2. NM_004937.3:c.1015G>A

HGVS Expressions

  • NG_012489.2:g.28813G>A
  • NM_004937.3:c.1015G>A
  • NP_004928.2:p.Gly339Arg

Associated Genes

Cystinosin
Back to search Result
Genomic Location

chr17:3660280

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908127

Clinvar

4455

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219800.3Arab1PathogenicCystinosis, NephropathicShahkarami et al. 2013 Compound heterozygous patient 'P8' in th...
219800.4Arab1PathogenicCystinosis, NephropathicShahkarami et al. 2013 Compound heterozygous patients 'P11' in ...
Download Table

Contributors

    Edit History

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