NM_001135254.2:c.166C>T

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HGVS Expressions

  • NG_023262.1:g.8378C>T
  • NM_001135254.2:c.166C>T
  • NP_001128726.1:p.Arg56Cys
  • NC_000001.11:g.18634383C>T

Associated Genes

Paired Box Gene 7
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1392068839

Clinvar

689509

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618578.2.1Saudi Arabia2NAPathogenicMyopathy, Congenital, Progressive, with ScoliosisFeichtinger et al. 2019 'Individual 4' in the publication
618578.2.2Saudi Arabia2NAPathogenicMyopathy, Congenital, Progressive, with ScoliosisFeichtinger et al. 2019 Sister of 618578.2.1
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Contributors

  • Asha Deepthi: 14.11.2022

Edit History

  • Asha Deepthi: 14.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.