NM_001128228.3:c.117del

  1. Home
  2. NM_001128228.3:c.117del

HGVS Expressions

  • NG_027801.2:g.8599del
  • NM_001128228.3:c.117del
  • NP_001121700.2:p.Ala41ArgfsTer409
  • NC_000009.12:g.137200597del

Associated Genes

Taperin
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613307.1United Arab Emirates1Likely PathogenicDeafness, Autosomal Recessive 79Tlili et al. 2024
Download Table

Contributors

  • Asha Deepthi: 04.09.2024

Edit History

  • Asha Deepthi: 04.09.2024
Back to search Result
© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.