NM_001044385.3:c.869+1G>A

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HGVS Expressions

  • NG_032049.1:g.19301G>A
  • NM_001044385.3:c.869+1G>A
  • NC_000002.12:g.201629229C>T

Associated Genes

Transmembrane Protein 237
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

730882231

Clinvar

183328

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614424.2Saudi Arabia2Likely PathogenicJoubert Syndrome 14Alazami et al. 2012 Younger brother had renal cysts and seiz...
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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.