NM_025114.3:c.4792_4795del

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HGVS Expressions

  • NG_008417.1:g.63350_63353del
  • NM_025114.3:c.4792_4795del
  • NP_079390.3:p.Lys1598SerfsTer8
  • NC_000012.12:g.88083869_88083872del

Associated Genes

Centrosomal Protein 290
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

1592833648

Clinvar

635087

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610188.4United Arab Emirates2PathogenicJoubert Syndrome 5Saleh et al. 2021 Affected sibling
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Contributors

  • Pratibha Nair: 05.10.2021

Edit History

  • Sami Bizzari: 07.02.2023
  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 06.10.2021
  • Pratibha Nair: 05.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.