NM_001101.3:c.773C>T

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HGVS Expressions

  • NG_007992.1:g.7292C>T
  • NM_001101.3:c.773C>T
  • NP_001092.1:p.Pro258Leu
  • NC_000007.14:g.5528310G>A

Associated Genes

Actin, Beta
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1554329281

Clinvar

545067

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
243310.1United Arab Emirates1Likely PathogenicBaraitser-Winter Syndrome 1Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 15.09.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 15.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.