NM_004260.3:c.3056-2A>C

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HGVS Expressions

  • NG_016430.1:g.10501A>C
  • NM_004260.3:c.3056-2A>C
  • NP_004251.3:p.?
  • NC_000008.11:g.144512326T>G

Associated Genes

RECQ Protein-Like 4
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786200889

Clinvar

6075

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
218600.1.1Lebanon2Likely PathogenicBaller-Gerold SyndromeMégarbané et al. 2000; Van Maldergem et al. 2006 Parents are first-cousins
218600.1.2Lebanon1Mégarbané et al. 2000; Van Maldergem et al. 2006 Father of patient 218600.1.1
218600.1.3Lebanon1Mégarbané et al. 2000; Van Maldergem et al. 2006 Mother of patient 218600.1.1
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Contributors

  • Sami Bizzari: 15.07.2021

Edit History

  • Sami Bizzari: 15.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.