NM_006177.5:c.339C>G

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HGVS Expressions

  • NG_011697.2:g.37505C>G
  • NM_006177.5:c.339C>G
  • NP_006168.1:p.Tyr113Ter
  • NC_000014.9:g.24082510G>C

Associated Genes

Neural Retina Leucine Zipper
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1566560531

Clinvar

623368

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
162080.1United Arab Emirates2Likely PathogenicEnhanced S-Cone SyndromeKhan. 2020; Alsalamah et al. 2020
162080.2United Arab Emirates2Likely PathogenicEnhanced S-Cone SyndromeKhan. 2020
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Contributors

  • Asha Deepthi: 31.05.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 31.10.2022
  • Pratibha Nair: 15.06.2022
  • Asha Deepthi: 31.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.