NM_173167.3:c.2261G>A

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HGVS Expressions

  • NG_042129.1:g.34794G>A
  • NM_173167.3:c.2261G>A
  • NP_775259.1:p.Arg754Gln

Associated Genes

Unc-45 Myosin Chaperone B
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Genomic Location

chr17:35177610

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

139715157

Clinvar

834072

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611220.1Lebanon2Likely PathogenicMyofibrillar Myopathy 11Dafsari et al, 2019 Proband
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Contributors

  • Asha Deepthi: 25.10.2020

Edit History

  • Sami Bizzari: 01.08.2021
  • Sami Bizzari: 08.06.2021
  • Asha Deepthi: 28.03.2021
  • Asha Deepthi: 25.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.