NM_001350748.2:c.1567A>G

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  2. NM_001350748.2:c.1567A>G

HGVS Expressions

  • NG_053176.1:g.192755A>G
  • NP_001337680.1:p.Ile494Val

Associated Genes

Sodium Leak Channel, Nonselective
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Genomic Location

chr13:101229452

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

150580612

Clinvar

701964

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615419.14Lebanon2Likely PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 09.12.2020

Edit History

  • Pratibha Nair: 09.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.