NM_052867.4:c.3056dupT

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HGVS Expressions

  • NG_053176.1:g.319034dupT
  • NM_052867.4:c.3056dupT
  • NP_443099.1:p.Leu1019Phefs
  • NC_000013.11:g.101103179dup

Associated Genes

Sodium Leak Channel, Nonselective
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Duplication

dbSNP

772394714

Clinvar

684701

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615419.1Lebanon2Likely PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Nair et al. 2018
615419.4.1Lebanon2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Bramswig et al. 2018 One sibling and two cousins similarly af...
615419.4.2Lebanon2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Bramswig et al. 2018 Sibling of 615419.4.1
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Contributors

  • Pratibha Nair: 20.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 29.09.2020
  • Pratibha Nair: 20.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.