NM_005502.4:c.5927+18T>C

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HGVS Expressions

  • NG_007981.1:g.142252T>C
  • NM_005502.4:c.5927+18T>C
  • NP_005493.2:p.?
  • NC_000009.12:g.104790904A>G

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 1
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

2020927

Clinvar

928662

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125853.G.41.7United Arab EmiratesNA0.334AssociationType 2 Diabetes MellitusElHajj Chehadeh et al. 2021 Study with 158 T2DM patients (T2DM assoc...
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Contributors

  • Asha Deepthi: 01.07.2022

Edit History

  • Pratibha Nair: 30.11.2022
  • Asha Deepthi: 01.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.