NM_000228.3:c.1942delG

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HGVS Expressions

  • NG_007116.1:g.31794delG
  • NM_000228.3:c.1942delG
  • NP_000219.2:p.Val648Trpfs*59

Associated Genes

Laminin, Beta-3
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Genomic Location

chr1:209625681-209625683

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226650.G.5YemenEpidermolysis Bullosa, Junctional 1A, IntermediateNakano et al. 2002 Unknown number of patients from 'family ...
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Contributors

    Edit History

    • Asha Deepthi: 27.08.2020
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    © CAGS 2024. All rights reserved.