NM_006208.3:c.517A>C

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HGVS Expressions

  • NG_008206.1:g.48213A>C
  • NM_006208.3:c.517A>C
  • NP_006199.2:p.Lys173Gln
  • NC_000006.12:g.131851228A>C

Associated Genes

Ectonucleotide Pyrophosphatase/Phosphodiesterase 1
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Clinvar Clinical Significance

Benign, Risk factor

Variant Type

Substitution

dbSNP

1044498

Clinvar

13589

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125853.G.6.1Lebanon0.231Type 2 Diabetes MellitusMtiraoui et al, 2012 Study with 751 Lebanese T2DM patients
125853.G.6.2Lebanon0.217Mtiraoui et al, 2012 Group consisting of 918 Lebanese control...
125853.G.6.3Tunisia0.333Type 2 Diabetes MellitusMtiraoui et al, 2012 Study with 1470 Tunisian T2DM patients
125853.G.6.4Tunisia0.331Mtiraoui et al, 2012 Group consisting of 838 Tunisian control...
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Contributors

  • Asha Deepthi: 24.05.2021

Edit History

  • Asha Deepthi: 03.06.2021
  • Asha Deepthi: 24.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.