NM_001350748.2:c.321G>A

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  2. NM_001350748.2:c.321G>A

HGVS Expressions

  • NG_053176.1:g.43583G>A
  • NM_001350748.2:c.321G>A
  • NP_001337677.1:p.Trp107Ter

Associated Genes

Sodium Leak Channel, Nonselective
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Genomic Location

chr13:101378624

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1594761911

Clinvar

684709

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615419.8.1Saudi Arabia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Bramswig et al. 2018
615419.8.2Saudi Arabia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Bramswig et al. 2018 Sibling of 615419.8.1
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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.