NM_020812.4:c.1362_1365del

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  2. NM_020812.4:c.1362_1365del

HGVS Expressions

  • NG_031953.1:g.24211_24214del
  • NM_020812.4:c.1362_1365del
  • NP_065863.2:p.Thr455SerfsTer24
  • NC_000019.10:g.11243281_11243284del

Associated Genes

Dedicator Of Cytokinesis 6
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

730882238

Clinvar

183335

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614219.2.1Saudi Arabia2NAPathogenicAdams-Oliver Syndrome 2Maddirevula et al. 2018
614219.2.2Saudi Arabia2NAPathogenicAdams-Oliver Syndrome 2Maddirevula et al. 2018 Relative of 614219.2.1
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Contributors

  • Asha Deepthi: 11.11.2021

Edit History

  • Asha Deepthi: 11.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.