NM_006005.3:c.1382C>G

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  2. NM_006005.3:c.1382C>G

HGVS Expressions

  • NG_011700.1:g.36328C>G
  • NM_006005.3:c.1382C>G
  • NP_005996.2:p.Thr461Ser

Associated Genes

Wolframin ER Transmembrane Glycoprotein
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Genomic Location

chr4:6301177

Clinvar Clinical Significance

Likely Benign, Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

71530925

Clinvar

229636

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: 13.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.