NM_015937.6:c.1079G>T

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HGVS Expressions

  • NG_047154.1:g.10362G>T
  • NM_015937.6:c.1079G>T
  • NP_057021.2:p.Gly360Val
  • NC_000020.11:g.45421428G>T

Associated Genes

Phosphatidylinositol Glycan Anchor Biosynthesis Class T Protein
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1277383877

Clinvar

451026

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615398.2.1Somalia2PathogenicMultiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3Ben Ayed et al. 2023; Bayat et al. 2019
615398.2.2Somalia2PathogenicMultiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3Ben Ayed et al. 2023; Bayat et al. 2019 Brother of 615398.2.1
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Contributors

  • Sayeeda Hana: 07.01.2025

Edit History

  • Sayeeda Hana: 07.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.