NM_001350748.2:c.3643C>T

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  2. NM_001350748.2:c.3643C>T

HGVS Expressions

  • NG_053176.1:g.338469C>T
  • NM_001350748.2:c.3643C>T
  • NP_001337677.1:p.Gln1215Ter

Associated Genes

Sodium Leak Channel, Nonselective
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Genomic Location

chr13:101083738

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1594168638

Clinvar

684704

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615419.5Tunisia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Bramswig et al. 2018
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Contributors

  • Pratibha Nair: 28.09.2020

Edit History

  • Pratibha Nair: 29.09.2020
  • Pratibha Nair: 28.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.