NM_000082.3:c.173+1046A>G

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HGVS Expressions

  • NG_009289.1:g.22261A>G
  • NM_000082.3:c.173+1046A>G
  • NP_000073.1:p.?
  • NC_000005.10:g.60927818T>C

Associated Genes

Excision-Repair Cross-Complementing, Group 8
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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
216400.6Lebanon2PathogenicCockayne Syndrome, Type ALaugel et al, 2010
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Contributors

  • Pratibha Nair: 15.01.2019

Edit History

  • Pratibha Nair: 08.11.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 09.06.2021
  • Pratibha Nair: 15.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.