NM_006005.3:c.320G>A

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  2. NM_006005.3:c.320G>A

HGVS Expressions

  • NG_011700.1:g.24142G>A
  • NM_006005.3:c.320G>A
  • NP_005996.2:p.Gly107Glu

Associated Genes

Wolframin ER Transmembrane Glycoprotein
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Genomic Location

chr4:6288991

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

71530914

Clinvar

982858

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222300.2Lebanon2Likely PathogenicZalloua et al. 2008
222300.5Lebanon2Likely PathogenicWolfram Syndrome 1Zalloua et al. 2008
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Contributors

  • Pratibha Nair: 13.04.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Pratibha Nair: 14.04.2020
  • Pratibha Nair: 13.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.