NM_015937.6:c.1519C>T

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HGVS Expressions

  • NG_047154.1:g.14542C>T
  • NM_015937.6:c.1519C>T
  • NP_057021.2:p.Arg507Trp
  • NC_000020.11:g.45425608C>T

Associated Genes

Phosphatidylinositol Glycan Anchor Biosynthesis Class T Protein
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

146484791

Clinvar

1003026

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615398.1Libya2Likely PathogenicMultiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3Ben Ayed et al. 2023
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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.