NM_138425.3:c.229+2T>C

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HGVS Expressions

  • NG_034262.1:g.5838T>C
  • NM_138425.3:c.229+2T>C
  • NC_000012.12:g.6944654T>C

Associated Genes

Chromosome 12 Open Reading Frame 57
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

886041151

Clinvar

279718

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
218340.12Oman2PathogenicTemtamy SyndromeAlrakaf et al. 2018
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Contributors

  • Sayeeda Hana: 23.10.2021

Edit History

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