NM_000525.4:c.601C>T

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HGVS Expressions

  • NG_012446.1:g.6169C>T
  • NM_000525.4:c.601C>T
  • NP_001364226.1:p.Arg114Cys
  • NC_000011.10:g.17387491G>A

Associated Genes

Potassium Channel, Inwardly Rectifying Subfamily J, Member 11
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80356625

Clinvar

8668

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606176.2Syria1PathogenicDiabetes Mellitus, Permanent Neonatal, 2Deeb et al. 2016 Diagnosed at 6 weeks and switched from i...
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Contributors

  • Sayeeda Hana: 05.07.2021

Edit History

  • Pratibha Nair: 02.02.2023
  • Sayeeda Hana: 19.09.2021
  • Sayeeda Hana: 05.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.