NM_001350748.2:c.2621_2622insATACTAAA

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HGVS Expressions

  • NG_053176.1:g.314675_314676insATACTAAA
  • NM_001350748.2:c.2621_2622insATACTAAA
  • NP_001337677.1:p.Phe875TyrfsTer2
  • NC_000013.11:g.101107531_101107532insTTTAGTAT

Associated Genes

Sodium Leak Channel, Nonselective
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CTGA Clinical Significance

Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615419.15United Arab Emirates2NAPathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Mahfouz et al. 2020
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Contributors

  • Asha Deepthi: 12.07.2022

Edit History

  • Asha Deepthi: 14.07.2022
  • Asha Deepthi: 12.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.