NM_138425.3:c.-3_2delinsG

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HGVS Expressions

  • NG_034262.1:g.5303_5307delinsG
  • NM_138425.3:c.-3_2delinsG
  • NP_612434.1:p.Met1?
  • NC_000012.12:g.6944119_6944123delinsG

Associated Genes

Chromosome 12 Open Reading Frame 57
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CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
218340.8Saudi Arabia2PathogenicTemtamy SyndromeAlrakaf et al. 2018
218340.9Saudi Arabia2PathogenicTemtamy SyndromeAlrakaf et al. 2018
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Contributors

  • Sayeeda Hana: 23.10.2021

Edit History

  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 23.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.