NM_001128126.1:c.295-3C>A

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HGVS Expressions

  • NG_031913.1:g.60465C>A
  • NM_001128126.1:c.295-3C>A
  • NC_000014.9:g.31080570C>A

Associated Genes

Adaptor-Related Protein Complex 4, Sigma-1 Subunit
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

185246578

Clinvar

210218

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614067.2United Arab Emirates2PathogenicSpastic Paraplegia 52, Autosomal RecessiveSaleh et al. 2021
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Contributors

  • Pratibha Nair: 07.10.2021

Edit History

  • Pratibha Nair: 07.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.