NM_003742.4:c.487T>G

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  2. NM_003742.4:c.487T>G

HGVS Expressions

  • NG_007374.2:g.40924T>G
  • NM_003742.4:c.487T>G
  • NP_003733.2:p.Trp163Gly

Associated Genes

ATP Binding Cassette, Subfamily B, Member 11
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605479.1Lebanon2Likely PathogenicCholestasis, Benign Recurrent Intrahepatic, 2Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 23.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 23.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.