NM_001375405.1:c.49+5_49+10delins477

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HGVS Expressions

  • NM_001375405.1:c.49+5_49+10delins477
  • NC_000005.10:g.123422940_123422945delins477

Associated Genes

Centrosomal Protein 120
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617761.1Palestine2Likely PathogenicJoubert Syndrome 31Roosing et al. 2016
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Contributors

  • Pratibha Nair: 05.07.2022

Edit History

  • Pratibha Nair: 05.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.