NM_000260.4:c.223G>T

  1. Home
  2. NM_000260.4:c.223G>T

HGVS Expressions

  • NG_009086.2:g.24643G>T
  • NM_000260.4:c.223G>T
  • NP_000251.3:p.Asp75Tyr
  • NC_000011.10:g.77147888G>T

Associated Genes

Myosin VIIA
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1565320509

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600060.G.1United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 2Elsayed O and Al-Shamsi A. 2022 Three patients
Download Table

Contributors

  • Sami Bizzari: 03.10.2023

Edit History

  • Sami Bizzari: 19.10.2023
  • Sami Bizzari: 03.10.2023
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.