NM_002641.4:c.1261G>C

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HGVS Expressions

  • NG_009786.1:g.18839G>C
  • NM_002641.4:c.1261G>C
  • NP_002632.1:p.Gly421Arg
  • NC_000023.11:g.15321700C>G

Associated Genes

Phosphatidylinositol Glycan Anchor Biosynthesis Class A Protein
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

771058274

Clinvar

984696

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300868.1EgyptPathogenicMultiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2Reuter et al. 2017
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Contributors

  • Sayeeda Hana: 11.09.2024

Edit History

  • Sayeeda Hana: 23.09.2024
  • Sayeeda Hana: 11.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.