NM_001298.3:c.1579C>A

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HGVS Expressions

  • NG_009097.1:g.55595C>A
  • NM_001298.3:c.1579C>A
  • NP_001289.1:p.Leu527Met
  • NC_000002.12:g.98396749C>A

Associated Genes

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

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

375928335

Clinvar

988792

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.1Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 1Wang et al. 2011
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Contributors

  • Sayeeda Hana: 18.07.2020

Edit History

  • Pratibha Nair: 09.11.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 18.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.