NM_025114.4:c.5932C>T

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HGVS Expressions

  • NG_008417.2:g.75844C>T
  • NM_025114.4:c.5932C>T
  • NP_079390.3:p.Arg1978Ter
  • NC_000012.12:g.88071373G>A

Associated Genes

Centrosomal Protein 290
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

371525247

Clinvar

217637

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610188.G.1United Arab Emirates3NAPathogenicJoubert Syndrome 5Ben-Salem et al. 2014 Three patients from 'MTI_1001' family in...
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Contributors

  • Asha Deepthi: 30.09.2022

Edit History

  • Asha Deepthi: 30.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.