NM_006457.5:c.407C>T

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  2. NM_006457.5:c.407C>T

HGVS Expressions

  • NM_006457.5:c.407C>T
  • NP_006448.5:p.Ser136Phe
  • NC_000004.12:g.94575731C>T

Associated Genes

PDZ and LIM Domain Protein 5
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CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

2452600

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
181500.G.1United Arab Emirates520.215BenignMoselhy et al. 2015 121 patients (71 males, 50 females) diag...
181500.G.2United Arab Emirates620.181BenignMoselhy et al. 2015 174 control subjects
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Contributors

  • Pratibha Nair: 29.06.2022

Edit History

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