NM_001134831.2:c.1328T>A

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HGVS Expressions

  • NG_008643.2:g.47016T>A
  • NM_001134831.2:c.1328T>A
  • NP_001128303.1:p.Val443Asp
  • NC_000006.12:g.135455750A>T

Associated Genes

Abelson Helper Integration Site 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

121434350

Clinvar

2012

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608629.5Saudi Arabia2Likely PathogenicJoubert Syndrome 3Alazami et al. 2012
608629.6Saudi Arabia2Likely PathogenicJoubert Syndrome 3Alazami et al. 2015; Alazami et al. 2012 Has similarly affected sibling and cousi...
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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.