NM_017890.4:c.6530_6732del

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HGVS Expressions

  • NG_007098.2:g.708906_709108del
  • NM_017890.4:c.6530_6732del
  • NP_060360.3:p.?
  • NC_000008.11:g.99717171_99717373del

Associated Genes

Vacuolar Protein Sorting 13, Yeast, Homolog of, B
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216550.4.1Syria2NAUncertain SignificanceCohen SyndromeTaban, 2007 Patient 'B1' in the publication
216550.4.2Syria2NACohen SyndromeTaban, 2007 Patient 'B2' in the publication, sister ...
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Contributors

    Edit History

    • Asha Deepthi: 16.03.2021
    • Asha Deepthi: 26.02.2019
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.