NM_017890.4:c.7934G>A

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  2. NM_017890.4:c.7934G>A

HGVS Expressions

  • NG_007098.2:g.776129G>A
  • NM_017890.4:c.7934G>A
  • NP_060360.3:p.Gly2645Asp
  • NC_000008.11:g.99784394G>A

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

120074153

Clinvar

2824

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216550.1.1Oman2PathogenicCohen SyndromeHennies et al. 2004 Sibling of 216550.1.2 and 216550.1.3
216550.1.2Oman2PathogenicCohen SyndromeHennies et al. 2004 Sibling of 216550.1.1 and 216550.1.3
216550.1.3Oman2PathogenicCohen SyndromeHennies et al. 2004 Sibling of 216550.1.1 and 216550.1.2
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Contributors

  • Pratibha Nair: 06.12.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 24.12.2018
  • Pratibha Nair: 06.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.