NM_004722.4:c.952C>T

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HGVS Expressions

  • NG_016312.1:g.9475C>T
  • NM_004722.4:c.952C>T
  • NP_004713.2:p.Arg318Ter
  • NC_000007.14:g.100105981C>T

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

730882249

Clinvar

183357

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612936.1Saudi Arabia2Likely PathogenicSpastic Paraplegia 50, Autosomal RecessiveAlazami et al. 2015
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Contributors

  • Pratibha Nair: 18.05.2023

Edit History

  • Pratibha Nair: 18.05.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.