NM_003361.4:c.306del

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HGVS Expressions

  • NG_008151.1:g.8721del
  • NM_003361.4:c.306del
  • NP_003352.2:p.Gly103ValfsTer141
  • NC_000016.10:g.20348997del

Associated Genes

Uromodulin
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

3065150

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162000.1Saudi Arabia1Likely PathogenicTubulointerstitial Kidney Disease, Autosomal Dominant, 1 Monies et al. 2017
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Contributors

  • Asha Deepthi: 04.12.2024

Edit History

  • Asha Deepthi: 04.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.