NM_015214.3:c.1546C>T

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  2. NM_015214.3:c.1546C>T

HGVS Expressions

  • NG_033875.1:g.25726C>T
  • NM_015214.3:c.1546C>T
  • NP_056029.2:p.Arg516Ter
  • NC_000008.11:g.38252216C>T

Associated Genes

DDHD Domain-Containing Protein 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

373856119

Clinvar

39680

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615033.1Oman2PathogenicSpastic Paraplegia 54, Autosomal RecessiveAl-Yahyaee et al. 2006; Schuurs-Hoeijmakers et al. 2012 Has one sibling and four cousins who are...
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Contributors

  • Pratibha Nair: 13.07.2022

Edit History

  • Pratibha Nair: 13.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.