NM_025114.4:c.5668G>T

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HGVS Expressions

  • NG_008417.2:g.69954G>T
  • NM_025114.4:c.5668G>T
  • NP_079390.3:p.Gly1890Ter
  • NC_000012.12:g.88077263C>A

Associated Genes

Centrosomal Protein 290
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137852832

Clinvar

1333

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.3Saudi Arabia2PathogenicRetinitis PigmentosaPatel et al. 2016
610188.1Saudi Arabia2PathogenicJoubert Syndrome 5Al-Hamed et al. 2016
610188.2Saudi Arabia2PathogenicJoubert Syndrome 5Al-Hamed et al. 2016 Has a similarly affected sibling
610188.6Saudi Arabia2NAPathogenicJoubert Syndrome 5Maddirevula et al. 2018
610188.7Saudi Arabia2NAPathogenicJoubert Syndrome 5Maddirevula et al. 2018
610188.9United Arab Emirates2PathogenicJoubert Syndrome 5Brancati et al. 2007
610188.10United Arab Emirates2PathogenicJoubert Syndrome 5Brancati et al. 2007
610188.11United Arab Emirates2NAPathogenicJoubert Syndrome 5Ben-Salem et al. 2014 Patient from 'JS_F11' family in the publ...
610188.12United Arab Emirates2NAPathogenicJoubert Syndrome 5Ben-Salem et al. 2014 Patient from 'MTI_587' family in the pub...
610188.13United Arab Emirates2NAPathogenicJoubert Syndrome 5Ben-Salem et al. 2014 Patient from 'MTI_012' family in the pub...
610188.14Saudi Arabia2PathogenicJoubert Syndrome 5Monies et al. 2017
611134.1Saudi Arabia2NAPathogenicMeckel Syndrome, Type 4Maddirevula et al. 2018
610188.G.1United Arab Emirates3NAPathogenicJoubert Syndrome 5Ben-Salem et al. 2014 Three patients from 'MTI_1001' family in...
610188.G.2Syria2PathogenicJoubert Syndrome 5Reuter et al. 2017 3 male members of a family
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Contributors

  • Pratibha Nair: 03.08.2020

Edit History

  • Asha Deepthi: 11.12.2024
  • Sayeeda Hana: 21.09.2024
  • Sayeeda Hana: 06.08.2024
  • Pratibha Nair: 12.01.2023
  • Asha Deepthi: 30.09.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 07.05.2022
  • Asha Deepthi: 31.10.2021
  • Pratibha Nair: 03.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.