NM_018486.3:c.562G>A

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  2. NM_018486.3:c.562G>A

HGVS Expressions

  • NG_015851.1:g.87109G>A
  • NM_018486.3:c.562G>A
  • NP_001159890.1:p.Ala97Thr
  • NC_000023.11:g.72490995C>T

Associated Genes

Histone Deacetylase 8
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1603069440

Clinvar

691251

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300882.1LebanonPathogenicCornelia de Lange Syndrome 5Nair et al. 2018
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Contributors

  • Pratibha Nair: 23.04.2020

Edit History

  • Sami Bizzari: 30.05.2021
  • Pratibha Nair: 23.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.