NM_018668.4:c.1406-2A>G

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HGVS Expressions

  • NG_012162.1:g.26140A>G
  • NM_018668.4:c.1406-2A>G
  • NC_000015.10:g.91001464T>C

Associated Genes

VPS33B Late Endosome and Lysosome Associated
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208085.2Saudi Arabia2NAUncertain SignificanceArthrogryposis, Renal Dysfunction, and Cholestasis 1Gissen et al. 2006 Patient from pedigree '27' in the public...
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Contributors

    Edit History

    • Asha Deepthi: 16.03.2021
    • Asha Deepthi: 19.02.2019
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.