NM_012096.3:c.2030A>T

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HGVS Expressions

  • NG_047003.1:g.46851A>T
  • NM_012096.3:c.2030A>T
  • NP_036228.1:p.Asn677Ile
  • NC_000003.12:g.57269587A>T

Associated Genes

Adaptor Protein, Phosphotyrosine Interaction, PH Domain, and Leucine Zipper-Containing Protein 1
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125853.27Qatar1Uncertain SignificanceType 2 Diabetes MellitusElashi et al. 2022
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Contributors

  • Asha Deepthi: 08.05.2025

Edit History

  • Asha Deepthi: 21.05.2025
  • Asha Deepthi: 08.05.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.