NM_006457.5:c.1283+412G>A

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  2. NM_006457.5:c.1283+412G>A

HGVS Expressions

  • NM_006457.5:c.1283+412G>A
  • NP_006448.5:p.?
  • NC_000004.12:g.94640862G>A

Associated Genes

PDZ and LIM Domain Protein 5
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CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

12641023

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
181500.G.1United Arab Emirates0.496BenignMoselhy et al. 2015 121 patients (71 males, 50 females) diag...
181500.G.2United Arab Emirates1750.512BenignMoselhy et al. 2015 174 control subjects
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Contributors

  • Pratibha Nair: 29.06.2022

Edit History

  • Asha Deepthi: 05.12.2022
  • Pratibha Nair: 29.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.