NM_006031.6:c.2984_2994del

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HGVS Expressions

  • NG_008961.2:g.47837_47847del
  • NM_006031.6:c.2984_2994del
  • NP_006022.3:p.Ala995GlyfsTer59
  • NC_000021.9:g.46366958_46366968del

Associated Genes

Pericentrin
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

587784302

Clinvar

159580

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210720.4.1Palestine2NALikely PathogenicMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIRauch et al. 2008 Patient 'P14' in the publication
210720.4.2Palestine1NARauch et al. 2008 Father of 210720.4.1
210720.4.3Palestine1NARauch et al. 2008 Mother of 210720.4.1
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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.