NM_003611.3:c.1193_1196del

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HGVS Expressions

  • NG_008872.1:g.25498AATC[1]
  • NM_003611.3:c.1193_1196del
  • NP_003602.1:p.Gln398LeufsTer2
  • NC_000023.11:g.13755210AATC[1]

Associated Genes

OFD1 Centriole and Centriolar Satellite Protein
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

312262868

Clinvar

41065

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
311200.1Saudi Arabia1NAPathogenicOrofaciodigital Syndrome IMaddirevula et al. 2018 Patient's parents are from the same trib...
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Contributors

  • Asha Deepthi: 09.02.2022

Edit History

  • Asha Deepthi: 09.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.