NM_147127.5:c.981delG

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HGVS Expressions

  • NG_015821.1:g.49010delG
  • NM_147127.5:c.981delG
  • NP_667338.3:p.Gly328Glufs*27

Associated Genes

EvC Ciliary Complex Subunit 2
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Genomic Location

chr4:5665539

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
225500.5.1Egypt2Ellis-van Creveld SyndromeAli et al. 2010
225500.5.2Egypt1Ali et al. 2010 Father of 225500.5.1
225500.5.3Egypt1Ali et al. 2010 Mother of 225500.5.1
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Contributors

    Edit History

    • Asha Deepthi: 19.08.2020
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    © CAGS 2024. All rights reserved.