NM_005236.3:c.909T>G

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HGVS Expressions

  • NG_011442.1:g.15670T>G
  • NM_005236.3:c.909T>G
  • NP_005227.1:p.Cys303Trp
  • NC_000016.10:g.13930826T>G

Associated Genes

Excision-Repair, Complementing Defective, In Chinese Hamster, 4
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
278760.1Egypt2PathogenicXeroderma Pigmentosum, Complementation Group FShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 29.01.2022

Edit History

  • Rahila Mir: 07.02.2022
  • Sayeeda Hana: 29.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.