NM_000124.4:c.2569C>T

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HGVS Expressions

  • NG_009442.1:g.70046C>T
  • NM_000124.4:c.2569C>T
  • NP_000115.1:p.Arg857Ter
  • NC_000010.11:g.49474056G>A

Associated Genes

Excision Repair Cross-Complementing, Group 6
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

751448793

Clinvar

553383

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
133540.3Saudi Arabia2PathogenicCockayne Syndrome B Monies et al. 2017
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Contributors

  • Asha Deepthi: 28.10.2024

Edit History

  • Asha Deepthi: 28.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.