NM_001252020.1:c.2394del

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HGVS Expressions

  • NG_016453.2:g.128134del
  • NM_001252020.1:c.2394del
  • NP_001238949.1:p.Thr799ProfsTer110

Associated Genes

Transient Receptor Potential Cation Channel, Subfamily M, Member 1
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Genomic Location

chr15:31038140

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613216.1.1Saudi Arabia2Likely PathogenicNight Blindness, Congenital Stationary, Type 1CAl Oreany et al. 2016
613216.1.2Saudi Arabia2Likely PathogenicNight Blindness, Congenital Stationary, Type 1CAl Oreany et al. 2016 Twin brother of 613216.1.1
613216.1.3Saudi Arabia1Likely PathogenicAl Oreany et al. 2016 Father of 613216.1.1
613216.1.4Saudi Arabia1Likely PathogenicAl Oreany et al. 2016 Mother of 613216.1.1
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Contributors

  • Sayeeda Hana: 01.07.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 01.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.