NM_024729.3:c.1126G>T

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  2. NM_024729.3:c.1126G>T

HGVS Expressions

  • NG_011645.1:g.45650G>T
  • NM_024729.3:c.1126G>T
  • NP_079005.3:p.Gly376Cys
  • NC_000019.10:g.50244277G>T

Associated Genes

Myosin, Heave Chain 14, Nonmuscle
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

119103280

Clinvar

2199

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
600316.1.3Lebanon; Saudi Arabia1NAKhalil et al, 2020 Father of the affected siblings
606658.1United Arab Emirates1Likely BenignAl-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 12.07.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Asha Deepthi: 22.10.2020
  • Pratibha Nair: 12.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.