NM_001298.3:c.955T>C

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HGVS Expressions

  • NG_009097.1:g.54971T>C
  • NM_001298.3:c.955T>C
  • NP_001289.1:p.Cys319Arg
  • NC_000002.12:g.98396125T>C

Associated Genes

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

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

753625117

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.9Saudi Arabia1PathogenicLeber Congenital Amaurosis 1Patel et al. 2016
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Contributors

  • Sayeeda Hana: 19.08.2024

Edit History

  • Sayeeda Hana: 19.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.