NM_018668.4:c.700+1G>A

  1. Home
  2. NM_018668.4:c.700+1G>A

HGVS Expressions

  • NG_012162.1:g.20655G>A
  • NM_018668.4:c.700+1G>A
  • NC_000015.10:g.91006949C>T

Associated Genes

VPS33B Late Endosome and Lysosome Associated
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

794726658

Clinvar

2204

Epidemiology in the Arab World

View Map
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
208085.4.2Saudi Arabia1NATaha et al. 2007 Parent of 208085.4.1
Download Table

Contributors

    Edit History

    • Asha Deepthi: 16.03.2021
    • Asha Deepthi: 19.02.2019
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.