NM_001298.3:c.1495C>T

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HGVS Expressions

  • NG_009097.1:g.55511C>T
  • NM_001298.3:c.1495C>T
  • NP_001289.1:p.Arg499Ter
  • NC_000002.12:g.98396665C>T

Associated Genes

Cyclic Nucleotide-Gated Channel, Alpha-3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1386641968

Clinvar

1075088

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216900.4United Arab Emirates1Likely PathogenicAchromatopsia 2Khan. 2020
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Contributors

  • Asha Deepthi: 17.05.2021

Edit History

  • Sami Bizzari: 21.12.2022
  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 17.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.