NM_001135254.2:c.220C>T

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HGVS Expressions

  • NG_023262.1:g.8432C>T
  • NM_001135254.2:c.220C>T
  • NP_001128726.1:p.Arg74Ter
  • NC_000001.11:g.18634437C>T

Associated Genes

Paired Box Gene 7
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1176071790

Clinvar

689508

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618578.1Palestine2NAPathogenicMyopathy, Congenital, Progressive, with ScoliosisFeichtinger et al. 2019 'Individual 3' in the publication
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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.