NM_014780.5:c.3733_3838del

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HGVS Expressions

  • NG_016205.1:g.17958_18231del
  • NM_014780.5:c.3733_3838del
  • NP_055595.2:p.Leu1245SerfsTer29
  • NC_000006.12:g.43040716_43040989del

Associated Genes

Cullin 7
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273750.G.7EgyptLikely PathogenicThree M Syndrome 1Huber et al. 2005 Unknown number of patients from a family
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Contributors

  • Asha Deepthi: 06.09.2024

Edit History

  • Asha Deepthi: 06.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.