NM_000326.5:c.773T>G

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HGVS Expressions

  • NG_008116.1:g.15971T>G
  • NM_000326.5:c.773T>G
  • NP_000317.1:p.Leu258Trp
  • NC_000015.10:g.89210721A>C

Associated Genes

Retinaldehyde-Binding Protein 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205494

Clinvar

191063

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
136880.2Saudi Arabia2Likely PathogenicFundus AlbipunctatusPatel et al. 2016
180090.1Saudi Arabia2Likely PathogenicMonies et al. 2017 This patient has a dual diagnosis of ret...
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Contributors

  • Sayeeda Hana: 21.08.2024

Edit History

  • Asha Deepthi: 09.10.2024
  • Sayeeda Hana: 21.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.