NM_001197104.1:c.2627_2630delGAGA

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HGVS Expressions

  • NG_027813.1:g.42297_42280delGAGA
  • NM_001197104.1:c.2627_2630delGAGA
  • NP_001184033.1:p.Arg876Thrfs

Associated Genes

Lysine-Specific Methyltransferase 2A
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Genomic Location

chr11:118473786:18473790

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
147920.2Lebanon1Likely PathogenicWiedemann-Steiner SyndromeNair 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.