NM_032634.4:c.1132C>T

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HGVS Expressions

  • NG_031990.1:g.8847C>T
  • NM_032634.4:c.1132C>T
  • NP_116023.2:p.Leu378Phe
  • NC_000009.12:g.35092755G>A

Associated Genes

Phosphatidylinositol Glycan Anchor Biosynthesis Class O Protein
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

746870615

Clinvar

372633

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614749.1.1Tunisia2Likely PathogenicHyperphosphatasia with Impaired Intellectual Development Syndrome 2Aguech et al. 2023 Patient has a family history of epilepti...
614749.1.2Tunisia1Aguech et al. 2023 Father of 614749.1.1
614749.1.3Tunisia1Aguech et al. 2023 Mother of 614749.1.1
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Contributors

  • Asha Deepthi: 13.03.2025

Edit History

  • Asha Deepthi: 13.03.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.