NM_005522.5:c.185del

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HGVS Expressions

  • NG_011813.1:g.5279del
  • NM_005522.5:c.185del
  • NP_005513.2:p.Gly62ValfsTer52
  • NC_000007.14:g.27095729del

Associated Genes

Homeobox A1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1562700083

Clinvar

14901

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601536.6Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2008 'Patient A1' in the publication
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Contributors

  • Asha Deepthi: 30.03.2023

Edit History

  • Asha Deepthi: 30.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.