NM_001350748.2:c.2522dupA

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  2. NM_001350748.2:c.2522dupA

HGVS Expressions

  • NG_053176.1:g.314488dup
  • NC_000013.11:g.101107725dup

Associated Genes

Sodium Leak Channel, Nonselective
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

1594218864

Clinvar

684705

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615419.6Tunisia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Bramswig et al. 2018 Had a similarly affected deceased siblin...
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Contributors

  • Pratibha Nair: 28.09.2020

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 29.09.2020
  • Pratibha Nair: 28.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.