NM_000124.4:c.2047C>T

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  2. NM_000124.4:c.2047C>T

HGVS Expressions

  • NG_009442.1:g.61293C>T
  • NM_000124.4:c.2047C>T
  • NP_000115.1:p.Arg683Ter
  • NC_000010.11:g.49482809G>A

Associated Genes

Excision Repair Cross-Complementing, Group 6
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

121917904

Clinvar

1711

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
133540.2Saudi Arabia2Likely PathogenicCockayne 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.