NM_024757.5:c.21+1_21+5del

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  2. NM_024757.5:c.21+1_21+5del

HGVS Expressions

  • NG_011776.1:g.5059_5063del
  • NM_024757.5:c.21+1_21+5del
  • NP_079033.4:p.?
  • NC_000009.12:g.137619050_137619054del

Associated Genes

Euchromatic Histone Methyltransferase 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1842769868

Clinvar

974820

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610253.1United Arab Emirates1Likely PathogenicKleefstra SyndromeBertoli-Avella et al. 2021
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Contributors

  • Pratibha Nair: 10.05.2022

Edit History

  • Pratibha Nair: 04.01.2023
  • Pratibha Nair: 05.12.2022
  • Pratibha Nair: 10.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.