NM_017890.4:c.1225G>T

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HGVS Expressions

  • NG_007098.2:g.126385G>T
  • NM_017890.4:c.1225G>T
  • NP_060360.3:p.Glu409Ter
  • NC_000008.11:g.99134650G>T

Associated Genes

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

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

386834071

Clinvar

56646

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216550.3.1Palestine2NALikely PathogenicCohen SyndromeTaban, 2007 Patient 'A1' in the publication
216550.3.2Palestine2NALikely PathogenicCohen SyndromeTaban, 2007 Patient 'A2' in the publication, sister ...
216550.3.3Palestine2NALikely PathogenicCohen SyndromeTaban, 2007 Patient 'A3' in the publication, sister ...
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Contributors

    Edit History

    • Asha Deepthi: 16.03.2021
    • Asha Deepthi: 26.02.2019
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.