NM_015202.5:c.2674C>T

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HGVS Expressions

  • NG_046731.1:g.204488C>T
  • NM_015202.5:c.2674C>T
  • NP_056017.3:p.Gln892Ter
  • NC_000016.10:g.27749634C>T

Associated Genes

Katanin-Interacting Protein
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

864309712

Clinvar

218948

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616784.1.1Saudi Arabia2PathogenicJoubert Syndrome 26Sanders et al. 2015
616784.1.2Saudi Arabia2PathogenicJoubert Syndrome 26Sanders et al. 2015 Sibling of 616784.1.1
616784.1.3Saudi Arabia2PathogenicJoubert Syndrome 26Sanders et al. 2015 Sibling of 616784.1.1
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Contributors

  • Pratibha Nair: 19.09.2022

Edit History

  • Pratibha Nair: 19.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.