NM_019892.6:c.1534C>T

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HGVS Expressions

  • NG_016126.1:g.12966C>T
  • NM_019892.6:c.1534C>T
  • NP_063945.2:p.Arg512Trp
  • NC_000009.12:g.136431839G>A

Associated Genes

Inositol Polyphosphate-5-Phosphatase, 72-KD
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

374152018

Clinvar

1437873

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
213300.G.1Oman; United Arab Emirate...10PathogenicJoubert Syndrome 1Bielas et al. 2009; Ben-Salem et al. 2014; Al-Gazali and Hamamy. 2014 Five Emirati patients of Omani origin fr...
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Contributors

    Edit History

    • Sami Bizzari: 06.06.2023
    • Pratibha Nair: 06.02.2023
    • Sami Bizzari: 26.12.2022
    • Pratibha Nair: 10.11.2022
    • Pratibha Nair: 23.08.2022
    • Asha Deepthi: 07.07.2020
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    © CAGS 2024. All rights reserved.