NM_018668.4:c.1312C>T

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HGVS Expressions

  • NG_012162.1:g.25461C>T
  • NM_018668.4:c.1312C>T
  • NP_061138.3:p.Arg438Ter
  • NC_000015.10:g.91002143G>A

Associated Genes

VPS33B Late Endosome and Lysosome Associated
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

121434384

Clinvar

2202

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208085.4.1Saudi Arabia1NALikely PathogenicArthrogryposis, Renal Dysfunction, and Cholestasis 1Taha et al. 2007 Compound heterozygous patient
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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.