NM_025114.4:c.4150C>T

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HGVS Expressions

  • NG_008417.2:g.59393C>T
  • NM_025114.4:c.4150C>T
  • NP_079390.3:p.Arg1384Cys
  • NC_000012.12:g.88087824G>A

Associated Genes

Centrosomal Protein 290
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

794727563

Clinvar

196793

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610188.15Saudi Arabia2Likely PathogenicJoubert Syndrome 5Monies et al. 2017
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Contributors

  • Asha Deepthi: 11.12.2024

Edit History

  • Asha Deepthi: 11.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.