NM_016464.5:c.389A>G

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  2. NM_016464.5:c.389A>G

HGVS Expressions

  • NG_032581.1:g.11609A>G
  • NM_016464.5:c.389A>G
  • NP_057548.1:p.Tyr130Cys
  • NC_000011.10:g.61368609A>G

Associated Genes

Transmembrane Protein 138
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

387907135

Clinvar

31191

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614465.5Oman2PathogenicJoubert Syndrome 16Lee et al. 2012 6 affected siblings who died in childhoo...
614465.7United Arab Emirates2Likely PathogenicJoubert Syndrome 16Ben-Salem et al. 2014
614465.8United Arab Emirates2Likely PathogenicJoubert Syndrome 16Ben-Salem et al. 2014
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Contributors

  • Pratibha Nair: 29.07.2020

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 29.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.