NM_000443.4:c.1768C>T

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  2. NM_000443.4:c.1768C>T

HGVS Expressions

  • NG_007118.2:g.53904C>T
  • NM_000443.4:c.1768C>T
  • NP_000434.1:p.Arg590Ter

Associated Genes

ATP-Binding Cassette, Subfamily B, Member 4
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Genomic Location

chr7:87431529

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1293893301

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602347.1Lebanon2Likely PathogenicCholestasis, Progressive Familial Intrahepatic, 3Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 26.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 26.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.