NM_006005.3:c.1441_1447dup

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HGVS Expressions

  • NG_011700.1:g.36387_36393dup
  • NM_006005.3:c.1441_1447dup
  • NP_005996.2:p.Val483fs

Associated Genes

Wolframin ER Transmembrane Glycoprotein
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Genomic Location

chr4:6301236-6301242

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

727503745

Clinvar

166564

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222300.1Saudi Arabia2PathogenicWolfram Syndrome 1Inoue et al. 1998
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Contributors

  • Pratibha Nair: 13.04.2020

Edit History

  • Sayeeda Hana: 27.09.2020
  • Pratibha Nair: 13.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.