NM_001044385.3:c.977_978del

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HGVS Expressions

  • NG_032049.1:g.21149_21150del
  • NM_001044385.3:c.977_978del
  • NP_001037850.1:p.Gln326ProfsTer5
  • NC_000002.12:g.201627380_201627381del

Associated Genes

Transmembrane Protein 237
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614424.1United Arab Emirates2NALikely PathogenicJoubert Syndrome 14Ben-Salem et al. 2014 Patient from 'MTI_131' family in the pub...
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Contributors

  • Asha Deepthi: 03.10.2022

Edit History

  • Asha Deepthi: 03.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.