NM_000033.4:c.394T>C

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HGVS Expressions

  • NG_009022.2:g.5793T>C
  • NM_000033.4:c.394T>C
  • NP_000024.2:p.Trp132Arg
  • NC_000023.11:g.153725660T>C

Associated Genes

ATP-Binding Cassette, Subfamily D, Member 1
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1241378333

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614876.1.1United Arab Emirates1Uncertain SignificanceZaabi et al. 2019 Proband (Patient 'III-6' in the publicat...
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Contributors

  • Asha Deepthi: 18.04.2021

Edit History

  • Pratibha Nair: 10.01.2023
  • Pratibha Nair: 06.12.2022
  • Rahila Mir: 22.02.2022
  • Asha Deepthi: 18.04.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.