NM_001298.3:c.1618G>A

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  2. NM_001298.3:c.1618G>A

HGVS Expressions

  • NG_009097.1:g.55634G>A
  • NM_001298.3:c.1618G>A
  • NP_001289.1:p.Val540Ile
  • NC_000002.12:g.98396788G>A

Associated Genes

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

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

116448158

Clinvar

425212

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.G.7Saudi Arabia4+Likely PathogenicRetinitis PigmentosaPatel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 14.08.2024

Edit History

  • Sayeeda Hana: 14.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.