NM_173654.3:c.1074del

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  2. NM_173654.3:c.1074del

HGVS Expressions

  • NG_042829.1:g.39219del
  • NM_173654.3:c.1074del
  • NP_775925.1:p.Phe359LeufsTer13
  • NC_000003.12:g.68979676del

Associated Genes

EGF Domain-Specific O-Linked N-Acetylglucosamine Transferase
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CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615297.1Jordan2NALikely PathogenicAdams-Oliver Syndrome 4Maddirevula et al. 2018
615297.3.1Saudi Arabia2NAPathogenicAdams-Oliver Syndrome 4Maddirevula et al. 2018
615297.3.2Saudi Arabia2NAPathogenicAdams-Oliver Syndrome 4Maddirevula et al. 2018 Relative of 615297.3.1
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Contributors

  • Asha Deepthi: 17.11.2021

Edit History

  • Rahila Mir: 08.02.2022
  • Asha Deepthi: 17.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.