NM_000553.5:c.95A>G

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  2. NM_000553.5:c.95A>G

HGVS Expressions

  • NG_008870.1:g.30281A>G
  • NM_000553.6:c.95A>G
  • NP_000544.2:p.Lys32Arg

Associated Genes

RECQ Protein-Like 2
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Genomic Location

chr8:31058542

Clinvar Clinical Significance

Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

34477820

Clinvar

135423

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277700.1Lebanon1Likely PathogenicWerner SyndromeJalkh et al. 2019
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Contributors

  • Pratibha Nair: 14.12.2020

Edit History

  • Pratibha Nair: 14.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.