NM_000124.4:c.2008C>T

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HGVS Expressions

  • NG_009442.1:g.61254C>T
  • NM_000124.4:c.2008C>T
  • NP_000115.1:p.Arg670Trp

Associated Genes

Excision Repair Cross-Complementing, Group 6
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Genomic Location

chr10:49482848

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

202080674

Clinvar

190158

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
133540.1.1Lebanon2PathogenicCockayne Syndrome B Chebly et al, 2018
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Contributors

  • Sayeeda Hana: 30.10.2019

Edit History

  • Sayeeda Hana: 30.10.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.