NM_006005.3:c.2068T>G

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  2. NM_006005.3:c.2068T>G

HGVS Expressions

  • NG_011700.1:g.37014T>G
  • NM_006005.3:c.2068T>G
  • NP_005996.2:p.Cys690Gly

Associated Genes

Wolframin ER Transmembrane Glycoprotein
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Genomic Location

chr4:6301863

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

754373473

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222300.6Lebanon2Likely PathogenicWolfram Syndrome 1Zalloua et al. 2008
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Contributors

  • Pratibha Nair: 14.04.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 14.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.