NM_020751.3:c.1167-24A>G

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HGVS Expressions

  • NG_028352.1:g.48851A>G
  • NM_020751.3:c.1167-24A>G
  • NP_065802.1:p.?
  • NC_000013.11:g.39699477A>G

Associated Genes

Component of Oligomeric Golgi Complex 6
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

730882236

Clinvar

183333

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614576.1United Arab Emirates2PathogenicCongenital Disorder of Glycosylation, Type IILBertoli-Avella et al. 2021
615328.1.1Saudi Arabia2PathogenicShaheen SyndromeAlazami et al. 2015; Shaheen et al. 2013
615328.1.G.1Saudi Arabia14PathogenicShaheen SyndromeShaheen et al. 2013 7 relatives of 615328.1.1
615328.G.1Saudi Arabia8PathogenicShaheen SyndromeShaheen et al. 2013 4 patients from 2 different consanguineo...
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Contributors

  • Pratibha Nair: 10.05.2022

Edit History

  • Pratibha Nair: 28.11.2022
  • Pratibha Nair: 28.09.2022
  • Pratibha Nair: 10.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.