NM_001252024.2:c.68_69inv

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HGVS Expressions

  • NG_016453.2:g.89354_89355inv
  • NM_001252024.2:c.68_69inv
  • NP_001238953.1:p.Met23Thr
  • NC_000015.10:g.31076919_31076920inv

Associated Genes

Transient Receptor Potential Cation Channel, Subfamily M, Member 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Inversion

Clinvar

1038747

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
120970.2Saudi Arabia2Likely PathogenicCone-Rod Dystrophy 2Patel et al. 2016
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Contributors

  • Sayeeda Hana: 15.08.2024

Edit History

  • Sayeeda Hana: 15.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.