NM_003221.4:c.650del

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HGVS Expressions

  • NG_008438.1:g.22384del
  • NM_003221.4:c.650del
  • NP_003212.2:p.Gly217fs

Associated Genes

Transcription Factor AP2-Beta
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Genomic Location

chr6:50803822

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1561964103

Clinvar

599040

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
169100.1Lebanon1PathogenicChar SyndromeMassaad et al. 2019 de novo mutation
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Contributors

  • Pratibha Nair: 05.10.2020

Edit History

  • Pratibha Nair: 05.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.