NM_152564.4:c.7365del

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  2. NM_152564.4:c.7365del

HGVS Expressions

  • NG_007098.2:g.768627del
  • NM_152564.4:c.7365del
  • NP_689777.3:p.Cys2455TrpfsTer20
  • NC_000008.11:g.99776892del

Associated Genes

Vacuolar Protein Sorting 13, Yeast, Homolog of, B
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1811766430

Clinvar

974865

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216550.8United Arab Emirates2PathogenicCohen SyndromeSaleh et al. 2021
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Contributors

  • Pratibha Nair: 06.10.2021

Edit History

  • Pratibha Nair: 06.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.