NM_015202.5:c.1672C>T

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  2. NM_015202.5:c.1672C>T

HGVS Expressions

  • NG_046731.1:g.176478C>T
  • NM_015202.5:c.1672C>T
  • NP_056017.4:p.Arg558Ter
  • NC_000016.10:g.27721624C>T

Associated Genes

Katanin-Interacting Protein
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

757493420

Clinvar

917945

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616784.2Saudi Arabia2Uncertain SignificanceJoubert Syndrome 26Maddirevula et al. 2019
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Contributors

  • Pratibha Nair: 05.10.2022

Edit History

  • Pratibha Nair: 05.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.