NM_024790.6:c.2131_2132del

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HGVS Expressions

  • NG_034100.1:g.94674_94675del
  • NM_024790.6:c.2131_2132del
  • NP_079066.5:p.Ser711LeufsTer11
  • NC_000008.11:g.67154041_67154042del

Associated Genes

Centrosome Spindle Pole-Associated Protein 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

1489884260

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615636.1United Arab Emirates2PathogenicJoubert Syndrome 21Saleh et al. 2021 Mother had recurrent abortions
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Contributors

  • Pratibha Nair: 06.10.2021

Edit History

  • Sami Bizzari: 07.02.2023
  • Pratibha Nair: 06.12.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 06.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.