NM_001378454.1:c.846dup

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HGVS Expressions

  • NG_011690.1:g.43757dup
  • NM_001378454.1:c.846dup
  • NP_001365383.1:p.Glu283ArgfsTer12
  • NC_000002.12:g.73424511dup

Associated Genes

ALMS1 Centrosome and Basal Body Associated Protein
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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
203800.2Saudi Arabia2Likely PathogenicAlstrom SyndromePatel et al. 2016
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Contributors

  • Sayeeda Hana: 07.08.2024

Edit History

  • Sayeeda Hana: 07.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.