NM_080424.2:c.40del

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HGVS Expressions

  • NG_008295.1:g.8225del
  • NM_080424.2:c.40del
  • NP_536349.2:p.Gln14SerfsTer25
  • NC_000002.12:g.230216888del

Associated Genes

Nuclear Body Protein SP110
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

397515362

Clinvar

5538

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
235550.5.1Lebanon2NAPathogenicHepatic Venoocclusive Disease with ImmunodeficiencyRoscioli et al. 2006 Patient 'E II.1' in the publication
235550.5.2Lebanon1NARoscioli et al. 2006 Father of 235550.5.1
235550.5.3Lebanon1NARoscioli et al. 2006 Mother of 235550.5.1
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Contributors

    Edit History

    • Pratibha Nair: 12.10.2022
    • Asha Deepthi: 08.03.2021
    • Sayeeda Hana: 17.09.2020
    • Asha Deepthi: 03.01.2019
    • Asha Deepthi: 09.12.2018
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.