NM_183075.3:c.533G>C

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  2. NM_183075.3:c.533G>C

HGVS Expressions

  • NG_007961.1:g.18452G>C
  • NM_183075.3:c.533G>C
  • NP_898898.1:p.Arg178Tyr

Associated Genes

Cytochrome P450, Family 2, Subfamily U, Polypeptide 1
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Genomic Location

chr4:107945012

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1183645965

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615030.1Lebanon2PathogenicSpastic Paraplegia 56, Autosomal RecessiveJalkh et al. 2019
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Contributors

  • Pratibha Nair: 21.10.2020

Edit History

  • Pratibha Nair: 21.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.