NM_000260.4:c.223G>T

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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
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1565320509

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276900.7United Arab Emirates2Likely PathogenicUsher Syndrome Type IKhan. 2024 Patient from 'family 2' in the publicati...
600060.G.1United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 2Elsayed O and Al-Shamsi A. 2022 Three patients
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Contributors

  • Sami Bizzari: 03.10.2023

Edit History

  • Asha Deepthi: 20.08.2024
  • Sami Bizzari: 19.10.2023
  • Sami Bizzari: 03.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.