NM_005845.5:c.3348G>C

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HGVS Expressions

  • NG_050651.2:g.243725G>C
  • NM_005845.5:c.3348G>C
  • NP_005836.2:p.Lys1116Asn
  • NC_000013.11:g.95062722C>G

Associated Genes

ATP-Binding Cassette, Subfamily C, Member 4
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Variant Type

Substitution

dbSNP

1751034

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
171050.G.1United Arab Emirates0.826Al-Mahayri et al. 2020 100 (52 females, 48 males) normal health...
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Contributors

  • Pratibha Nair: 24.02.2022

Edit History

  • Sayeeda Hana: 13.01.2023
  • Pratibha Nair: 01.03.2022
  • Pratibha Nair: 24.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.