NM_000260.4:c.247C>A

  1. Home
  2. NM_000260.4:c.247C>A

HGVS Expressions

  • NG_009086.2:g.24667C>A
  • NM_000260.4:c.247C>A
  • NP_000251.3:p.Arg83Ser
  • NC_000011.10:g.77147912C>A

Associated Genes

Myosin VIIA
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

781790246

Clinvar

560896

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604487.2United Arab Emirates1Uncertain SignificanceTlili et al. 2024 Patient has heterozygous variants in OTO...
Download Table

Contributors

  • Asha Deepthi: 04.09.2024

Edit History

  • Asha Deepthi: 04.09.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.