NM_006182.4:c.2468_2469del

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HGVS Expressions

  • NG_016290.2:g.153934_153935del
  • NM_006182.4:c.2468_2469del
  • NP_006173.2:p.Ser823CysfsTer3
  • NC_000001.11:g.162780146_162780147del

Associated Genes

Discoidin Domain Receptor Family, Member 2
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
271665.2.1Oman2PathogenicSpondylometaepiphyseal Dysplasia, Short Limb-Hand TypeAl-Kindi et al. 2014 Similarly affected sister
271665.2.2Oman1PathogenicAl-Kindi et al. 2014 Father of 271665.2.1
271665.2.3Oman1PathogenicAl-Kindi et al. 2014 Mother of 271665.2.1
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Contributors

  • Pratibha Nair: 13.07.2022

Edit History

  • Pratibha Nair: 13.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.