NM_001161.5:c.34C>T

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HGVS Expressions

  • NM_001161.5:c.34C>T
  • NP_001152.1:p.Arg12Ter
  • NC_000009.12:g.34339073C>T

Associated Genes

Nudix Hydrolase 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

148119952

Clinvar

1686822

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619844.G.1Saudi Arabia4PathogenicIntellectual Developmental Disorder with or without Peripheral NeuropathyAnazi et al. 2017a Two sisters
619844.G.2Saudi Arabia10PathogenicIntellectual Developmental Disorder with or without Peripheral NeuropathyYavuz et al. 2018 Five patients (three males; two females)...
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Contributors

  • Asha Deepthi: 23.03.2023

Edit History

  • Asha Deepthi: 23.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.