NM_183075.3:c.947A>T

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  2. NM_183075.3:c.947A>T

HGVS Expressions

  • NG_007961.1:g.18866A>T
  • NM_183075.3:c.947A>T
  • NP_898898.1:p.Asp316Val
  • NC_000004.12:g.107945426A>T

Associated Genes

Cytochrome P450, Family 2, Subfamily U, Polypeptide 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397514513

Clinvar

39500

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615030.2Saudi Arabia2PathogenicSpastic Paraplegia 56, Autosomal RecessiveMonies et al. 2017
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Contributors

  • Asha Deepthi: 02.10.2024

Edit History

  • Asha Deepthi: 02.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.