NM_013296.4:c.1055C>A

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  2. NM_013296.4:c.1055C>A

HGVS Expressions

  • NG_028108.2:g.32878C>A
  • NM_013296.4:c.1055C>A
  • NP_037428.3:p.Ser352*

Associated Genes

G Protein Signaling Modulator 2
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Genomic Location

Chr1:108903227

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604213.2.1Yemen2PathogenicChudley-McCullough SyndromeHamzeh et al. 2016
604213.2.2Yemen2PathogenicChudley-McCullough SyndromeHamzeh et al. 2016 Brother of 604213.2.1
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Contributors

  • Pratibha Nair: 29.10.2018

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 17.01.2019
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© CAGS 2024. All rights reserved.