NM_006005.3:c.1936_1943del

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HGVS Expressions

  • NG_011700.1:g.36882_36889del
  • NM_006005.3:c.1936_1943del
  • NP_005996.2:p.Phe646fs
  • NC_000004.12:g.6301731_6301738del

Associated Genes

Wolframin ER Transmembrane Glycoprotein
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

dbSNP

71524374

Clinvar

30553

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125853.2Lebanon1Likely PathogenicType 2 Diabetes MellitusZalloua et al. 2008
222300.G.3Lebanon4PathogenicWolfram Syndrome 1Zalloua et al. 2008 Family with 2 affected members
222300.G.6Lebanon4PathogenicWolfram Syndrome 1Zalloua et al. 2008 Family with 2 affected members
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Contributors

  • Pratibha Nair: 13.04.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 27.09.2020
  • Pratibha Nair: 14.04.2020
  • Pratibha Nair: 13.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.