NM_003072.5:c.1289T>C

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HGVS Expressions

  • NG_011556.3:g.35262T>C
  • NM_003072.5:c.1289T>C
  • NP_003063.2:p.Leu430Pro
  • NC_000019.10:g.10991193T>C

Associated Genes

SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 4
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

746562413

Clinvar

1769047

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614609.2Saudi Arabia1Likely PathogenicCoffin-Siris Syndrome 4Monies et al. 2019 de novo mutation
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Contributors

  • Pratibha Nair: 16.11.2023

Edit History

  • Pratibha Nair: 16.11.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.