NM_000033.4:c.309C>G

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  2. NM_000033.4:c.309C>G

HGVS Expressions

  • NG_009022.1:g.5708C>G
  • NM_000033.4:c.309C>G
  • NP_000024.2:p.Ser103Arg
  • NC_000023.11:g.153725575C>G

Associated Genes

ATP-Binding Cassette, Subfamily D, Member 1
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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
300100.3United Arab Emirates2Likely PathogenicAdrenoleukodystrophyAl-Shamsi et al. 2014
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Contributors

  • Sayeeda Hana: 23.09.2021

Edit History

  • Sami Bizzari: 24.01.2024
  • Pratibha Nair: 03.01.2023
  • Rahila Mir: 09.02.2022
  • Sayeeda Hana: 23.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.