NM_004937.3:c.681+1G>A

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HGVS Expressions

  • NG_012489.1:g.25329G>A
  • NM_004937.3:c.681+1G>A
  • NP_004928.2:p.?
  • NC_000017.11:g.3656796G>A

Associated Genes

Cystinosin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

749317721

Clinvar

966528

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219800.11United Arab Emirates2Likely PathogenicCystinosis, NephropathicBen-Rebeh et al. 2012
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Contributors

  • Sayeeda Hana: 01.06.2021

Edit History

  • Pratibha Nair: 06.12.2022
  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 01.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.