NM_025114.4:c.3775_3776delAG

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HGVS Expressions

  • NG_008417.2:g.57931_57932AG
  • NM_025114.4:c.3775_3776delAG
  • NP_079390.3:p.Arg1259fs

Associated Genes

Centrosomal Protein 290
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Genomic Location

chr12:88089283-88089284

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

765483163

Clinvar

191278

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610188.2Saudi Arabia2PathogenicJoubert Syndrome 5Al-Hamed et al. 2016 Has a similarly affected sibling
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Contributors

  • Pratibha Nair: 03.08.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Pratibha Nair: 03.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.