NM_004260.3:c.1000G>T

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HGVS Expressions

  • NG_016430.1:g.6708G>T
  • NM_004260.3:c.1000G>T
  • NP_004251.3:p.Glu334Ter
  • NC_000008.11:g.144516119C>A

Associated Genes

RECQ Protein-Like 4
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268400.1United Arab Emirates2Likely PathogenicRothmund-Thomson SyndromeAl-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 20.05.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 24.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.