NM_001298.3:c.1114C>T

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  2. NM_001298.3:c.1114C>T

HGVS Expressions

  • NG_009097.1:g.55130C>T
  • NM_001298.3:c.1114C>T
  • NP_001289.1:p.Pro372Ser
  • NC_000002.12:g.98396284C>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

1464167194

Clinvar

812281

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216900.3United Arab Emirates2Likely PathogenicAchromatopsia 2Khan. 2020
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Contributors

  • Asha Deepthi: 17.05.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Asha Deepthi: 17.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.