NM_001298.3:c.556C>T

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  2. NM_001298.3:c.556C>T

HGVS Expressions

  • NG_009097.1:g.48610T>C
  • NM_001298.3:c.556C>T
  • NP_001289.1:p.Leu186Phe

Associated Genes

Cyclic Nucleotide-Gated Channel, Alpha-3
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Genomic Location

chr2:98389764

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216900.G.1Saudi Arabia6PathogenicAchromatopsia 2Patel et al, 2018 3 family members
216900.G.2Saudi Arabia4+Likely PathogenicAchromatopsia 2Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 11.06.2020

Edit History

  • Sayeeda Hana: 28.08.2024
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 17.06.2020
  • Sayeeda Hana: 11.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.