NM_025114.4:c.4714G>T

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HGVS Expressions

  • NG_008417.1:g.63272G>T
  • NM_025114.4:c.4714G>T
  • NP_079390.3:p.Glu1572Ter
  • NC_000012.12:g.88083945C>A

Associated Genes

Centrosomal Protein 290
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1292516576

Clinvar

993032

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610188.5Saudi Arabia2NAPathogenicJoubert Syndrome 5Maddirevula et al. 2018; Alazami et al. 2012
610188.8Saudi Arabia2NAPathogenicJoubert Syndrome 5Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 31.10.2021

Edit History

  • Asha Deepthi: 31.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.