NM_000123.4:c.205C>T

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HGVS Expressions

  • NG_007146.1:g.11411C>T
  • NM_000123.4:c.205C>T
  • NP_000114.3:p.Arg69Ter
  • NC_000013.11:g.102852234C>T

Associated Genes

Excision-Repair, Complementing Defective, in Chinese Hamster, 5
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1882232971

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
278780.1United Arab Emirates2PathogenicXeroderma Pigmentosum, Complementation Group GAl-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 27.07.2020

Edit History

  • Pratibha Nair: 09.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 27.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.