NM_001127671.1:c.380dup

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HGVS Expressions

  • NG_011817.1:g.73234dup
  • NM_001127671.1:c.380dup
  • NP_001121143.1:p.Asn128LysfsTer2
  • NC_000005.10:g.38527172dup

Associated Genes

Leukemia Inhibitory Factor Receptor
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601559.8Lebanon1Likely PathogenicStuve-Wiedemann SyndromeJung et al. 2010
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Contributors

  • Pratibha Nair: 07.07.2021

Edit History

  • Pratibha Nair: 07.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.