NM_001128849.2:c.3506A>G

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HGVS Expressions

  • NG_011556.2:g.74932A>G
  • NM_001128849.2:c.3506A>G
  • NP_001122321.1:p.Asp1169Gly

Associated Genes

SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 4
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Genomic Location

chr19:11030853

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614609.1Lebanon1Likely PathogenicCoffin-Siris Syndrome 4Nair et al. 2018
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Contributors

  • Pratibha Nair: 14.04.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 14.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.