NM_000260.4:c.5835C>T

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  2. NM_000260.4:c.5835C>T

HGVS Expressions

  • NG_009086.2:g.84136C>T
  • NM_000260.4:c.5835C>T
  • NP_000251.3:p.Leu1945=

Associated Genes

Myosin VIIA
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Genomic Location

chr11:77207381

Clinvar Clinical Significance

Benign, Likely Benign

Variant Type

Substitution

dbSNP

111033476

Clinvar

43302

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600316.1.1Lebanon1NADeafness, Autosomal Recessive 3Khalil et al, 2020
600316.1.2Lebanon1NADeafness, Autosomal Recessive 3Khalil et al, 2020
600316.1.4Lebanon; Saudi Arabia1NAKhalil et al, 2020 Mother of the affected siblings
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Contributors

  • Asha Deepthi: 22.10.2020

Edit History

  • Asha Deepthi: 22.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.