NM_017890.4:c.1219C>T

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  2. NM_017890.4:c.1219C>T

HGVS Expressions

  • NG_007098.2:g.126379C>T
  • NM_017890.4:c.1219C>T
  • NP_060360.3:p.Gln407Ter
  • NC_000008.11:g.99134644C>T

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

386834070

Clinvar

56645

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216550.2.1Saudi Arabia2PathogenicCohen SyndromeMochida et al. 2004 Sibling of 216550.2.2 and 216550.2.3
216550.2.2Saudi Arabia2PathogenicCohen SyndromeMochida et al. 2004 Sibling of 216550.2.1 and 216550.2.3
216550.2.3Saudi Arabia2PathogenicCohen SyndromeMochida et al. 2004 Sibling of 216550.2.1 and 216550.2.2
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Contributors

  • Pratibha Nair: 06.12.2018

Edit History

  • Precise Support: 07.11.2022
  • 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.