NM_001290553.1:c.346C>A

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  2. NM_001290553.1:c.346C>A

HGVS Expressions

  • NG_052860.1:g.17050C>A
  • NM_001290553.1:c.346C>A
  • NP_001277482.1:p.Pro116Thr

Associated Genes

Adiponectin Receptor 1
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Genomic Location

chr1:202946523

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.2.1Saudi Arabia2PathogenicMonies et al. 2017 Patient was found to have a dual diagnos...
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Contributors

  • Sayeeda Hana: 11.08.2019

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 14.08.2019
  • Sayeeda Hana: 11.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.