NM_006031.6:c.4976_4980del

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HGVS Expressions

  • NG_008961.2:g.83223_83227del
  • NM_006031.6:c.4976_4980del
  • NP_006022.3:p.Lys1659ThrfsTer8
  • NC_000021.9:g.46402344_46402348del

Associated Genes

Pericentrin
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

dbSNP

756170729

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210720.5.1Lebanon2NAUncertain SignificanceMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIRauch et al. 2008 Patient 'P17' in the publication
210720.5.2Lebanon1NARauch et al. 2008 Father of 210720.5.1
210720.5.3Lebanon1NARauch et al. 2008 Mother of 210720.5.1
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Contributors

    Edit History

    • Pratibha Nair: 08.11.2022
    • Asha Deepthi: 10.03.2021
    • Asha Deepthi: 31.12.2018
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.