NM_007347.5:c.542+5_542+8del

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HGVS Expressions

  • NG_031875.2:g.21553_21556del
  • NM_007347.5:c.542+5_542+8del
  • NP_031373.2:p.?
  • NC_000015.10:g.50925224_50925227del

Associated Genes

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

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

2141147450

Clinvar

1344794

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613744.2.1Syria2Likely PathogenicSpastic Paraplegia 51, Autosomal RecessiveAbou Jamra et al. 2011 Index patient
613744.2.2Syria2Likely PathogenicSpastic Paraplegia 51, Autosomal RecessiveAbou Jamra et al. 2011 Double first cousin of 613744.2.1
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Contributors

  • Sayeeda Hana: 21.09.2024

Edit History

  • Sayeeda Hana: 21.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.