NM_006005.3:c.2524C>T

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  2. NM_006005.3:c.2524C>T

HGVS Expressions

  • NG_011700.1:g.37470C>T
  • NM_006005.3:c.2524C>T
  • NP_005996.2:p.Leu842Phe
  • NC_000004.12:g.6302319C>T

Associated Genes

Wolframin ER Transmembrane Glycoprotein
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

71530915

Clinvar

1518006

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222300.3Lebanon2PathogenicWolfram Syndrome 1Zalloua et al. 2008
222300.G.1Lebanon8PathogenicWolfram Syndrome 1Zalloua et al. 2008 Family with 4 affected members
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Contributors

  • Pratibha Nair: 13.04.2020

Edit History

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