NM_138425.4:c.43C>T

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  2. NM_138425.4:c.43C>T

HGVS Expressions

  • NG_034262.1:g.5348C>T
  • NM_138425.4:c.43C>T
  • NP_612434.1:p.Gln15Ter
  • NC_000012.12:g.6944164C>T

Associated Genes

Chromosome 12 Open Reading Frame 57
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1565574197

Clinvar

620193

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
218340.10Oman2PathogenicTemtamy SyndromeAlrakaf et al. 2018
218340.11Oman2PathogenicTemtamy SyndromeAlrakaf et al. 2018
218340.25Saudi Arabia2PathogenicTemtamy SyndromeMonies et al. 2017 Patient has a similarly affected younger...
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Contributors

  • Sayeeda Hana: 23.10.2021

Edit History

  • Asha Deepthi: 04.10.2024
  • Sayeeda Hana: 23.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.