NM_003611.3:c.2757+1del

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HGVS Expressions

  • NG_008872.1:g.37573del
  • NM_003611.3:c.2757+1del
  • NP_003602.1:p.?
  • NC_000023.11:g.13767285del

Associated Genes

OFD1 Centriole and Centriolar Satellite Protein
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
311200.2United Arab Emirates1Likely PathogenicOrofaciodigital Syndrome IBen-Salem et al. 2015 Patient's parents are from the same trib...
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Contributors

  • Sayeeda Hana: 11.04.2022

Edit History

  • Asha Deepthi: 05.12.2022
  • Sayeeda Hana: 11.04.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.