NM_025114.4:c.5824C>T

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  2. NM_025114.4:c.5824C>T

HGVS Expressions

  • NG_008417.2:g.75405C>T
  • NM_025114.4:c.5824C>T
  • NP_079390.3:p.Gln1942Ter

Associated Genes

Centrosomal Protein 290
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Genomic Location

chr12:88071812

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

763345078

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610188.3.1Palestine2PathogenicJoubert Syndrome 5Valente et al. 2006
610188.3.2Palestine2PathogenicJoubert Syndrome 5Valente et al. 2006 Sibling of 610188.3.1
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Contributors

  • Pratibha Nair: 03.08.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 03.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.