NM_001080510.4:c.434_438del

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HGVS Expressions

  • NG_041790.1:g.11718_11722del
  • NM_001080510.4:c.434_438del
  • NP_001073979.3:p.Leu145GlnfsTer12
  • NC_000017.11:g.76733547_76733551del

Associated Genes

Methyltransferase-Like 23
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

dbSNP

767883844

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615942.2United Arab Emirates2Uncertain SignificanceMental Retardation, Autosomal Recessive 44Saleh et al. 2021 Cousin with MPS3
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Contributors

  • Pratibha Nair: 01.02.2022

Edit History

  • Sami Bizzari: 07.02.2023
  • Pratibha Nair: 01.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.