NM_032634.4:c.1109A>G

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  2. NM_032634.4:c.1109A>G

HGVS Expressions

  • NG_031990.1:g.8562A>G
  • NM_032634.4:c.1109A>G
  • NP_116023.2:p.Asn370Ser
  • NC_000009.12:g.35093040T>C

Associated Genes

Phosphatidylinositol Glycan Anchor Biosynthesis Class O Protein
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1214104267

Clinvar

1067428

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614730.1Qatar10.009PathogenicDevadoss Gandhi et al. 2024 1 individual from a study of 14,060 Qata...
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Contributors

  • Sayeeda Hana: 19.01.2025

Edit History

  • Sayeeda Hana: 19.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.