NM_001384732.1:c.8140C>T

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HGVS Expressions

  • NG_032772.3:g.100403C>T
  • NM_001384732.1:c.8140C>T
  • NP_001371661.1:p.Arg2714Ter
  • NC_000005.10:g.37153973G>A

Associated Genes

Chromosome 5 Open Reading Frame 42
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

147416429

Clinvar

217566

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614615.1Saudi Arabia2Likely PathogenicJoubert Syndrome 17Alazami et al. 2012
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Contributors

  • Pratibha Nair: 19.10.2023

Edit History

  • Pratibha Nair: 19.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.