NM_133444.3:c.479A>C

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HGVS Expressions

  • NG_053183.1:g.9612A>C
  • NM_133444.3:c.479A>C
  • NP_597701.1:p.Lys160Thr
  • NC_000019.10:g.42224882A>C

Associated Genes

Zinc Finger Protein 526
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

730882205

Clinvar

183288

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619877.1Saudi Arabia2Likely PathogenicDentici-Novelli Neurodevelopmental SyndromeAlazami et al. 2015 Patient had Noonan-like facies
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Contributors

  • Pratibha Nair: 18.05.2023

Edit History

  • Pratibha Nair: 18.05.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.