NM_017890.4:c.11785C>G

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  2. NM_017890.4:c.11785C>G

HGVS Expressions

  • NG_007098.2:g.863397C>G
  • NM_017890.4:c.11785C>G
  • NP_060360.3:p.Gln3929Glu

Associated Genes

Vacuolar Protein Sorting 13, Yeast, Homolog of, B
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Genomic Location

chr8:99871662

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

545957190

Clinvar

198309

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216550.7Lebanon2Likely PathogenicCohen SyndromeJalkh et al. 2019
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Contributors

  • Pratibha Nair: 17.11.2020

Edit History

  • Pratibha Nair: 17.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.