NM_015335.4:c.4120del

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  2. NM_015335.4:c.4120del

HGVS Expressions

  • NG_023366.1:g.295703del
  • NM_015335.4:c.4120del
  • NP_056150.1:p.Glu1374LysfsTer14
  • NC_000012.12:g.115986485del

Associated Genes

Mediator Complex Subunit 13-Like
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1877698147

Clinvar

984812

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616789.1United Arab Emirates1Likely PathogenicImpaired Intellectual Development and Distinctive Facial Features with or without Cardiac DefectsSaleh et al. 2021 De novo mutation
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Contributors

  • Pratibha Nair: 26.09.2021

Edit History

  • Pratibha Nair: 26.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.