NM_002075.4:c.825C>T

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  2. NM_002075.4:c.825C>T

HGVS Expressions

  • NG_009100.2:g.10501C>T
  • NM_002075.4:c.825C>T
  • NP_002066.1:p.Ser275=
  • NC_000012.12:g.6845711C>T

Associated Genes

Guanine Nucleotide-Binding Protein, Beta-3
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

5443

Clinvar

226004

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125853.G.28.1United Arab Emirates3340.65AssociationType 2 Diabetes MellitusKiani et al. 2005 256 Emiratis with diabetes; 110 homozygo...
125853.G.28.2United Arab Emirates2620.52AssociationKiani et al. 2005 254 Emiratis controls; 60 homozygotes
139130.G.1.3United Arab Emirates360.38Obineche et al. 2001 Study with 98 left ventricular hypertrop...
139130.G.1.6United Arab Emirates500.47Obineche et al. 2001 Control group of 115 subjects with no LV...
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Contributors

  • Pratibha Nair: 29.08.2021

Edit History

  • Sayeeda Hana: 27.11.2022
  • Sayeeda Hana: 27.08.2022
  • Sayeeda Hana: 24.08.2022
  • Pratibha Nair: 29.08.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.