NM_006052.2:c.178G>T

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HGVS Expressions

  • NG_009410.1:g.32015G>T
  • NM_006052.2:c.178G>T
  • NP_006043.1:p.Glu60Ter
  • NC_000021.9:g.37240519C>A

Associated Genes

VPS26 Endosomal Protein-Sorting Factor C
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

2086074876

Clinvar

974902

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605298.1.1United Arab Emirates2Likely PathogenicNeurodevelopmental Deficit, Growth Failure, and Skeletal AbnormalitiesBeetz et al. 2020; Saleh et al. 2021 Proband
605298.1.2United Arab Emirates2Likely PathogenicNeurodevelopmental Deficit, Growth Failure, and Skeletal AbnormalitiesBeetz et al. 2020; Saleh et al. 2021 Paternal cousin of 605298.1.1
605298.1.GUnited Arab Emirates5Beetz et al. 2020 5 unaffected relatives of 605298.1.1 and...
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Contributors

  • Asha Deepthi: 07.04.2021

Edit History

  • Pratibha Nair: 05.01.2023
  • Pratibha Nair: 15.11.2022
  • Pratibha Nair: 09.11.2022
  • Pratibha Nair: 19.01.2022
  • Asha Deepthi: 07.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.