NM_138425.4:c.53-2A>G

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  2. NM_138425.4:c.53-2A>G

HGVS Expressions

  • NG_034262.1:g.5658A>G
  • NM_138425.4:c.53-2A>G
  • NC_000012.12:g.6944474A>G

Associated Genes

Chromosome 12 Open Reading Frame 57
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1114167293

Clinvar

242885

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
218340.5Saudi Arabia2PathogenicTemtamy SyndromeAlrakaf et al. 2018
218340.6Saudi Arabia2PathogenicTemtamy SyndromeAlrakaf et al. 2018
218340.7Saudi Arabia2PathogenicTemtamy SyndromeAlrakaf et al. 2018
218340.19Saudi Arabia2Likely PathogenicTemtamy SyndromeMonies et al. 2019
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Contributors

  • Sayeeda Hana: 23.10.2021

Edit History

  • Pratibha Nair: 18.12.2023
  • Sayeeda Hana: 23.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.