NM_000326.5:c.452G>A

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HGVS Expressions

  • NG_008116.1:g.11559G>A
  • NM_000326.5:c.452G>A
  • NP_000317.1:p.Arg151Gln
  • NC_000015.10:g.89215133C>T

Associated Genes

Retinaldehyde-Binding Protein 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137853290

Clinvar

13097

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
136880.1Saudi Arabia2PathogenicFundus AlbipunctatusPatel et al. 2016
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Contributors

  • Sayeeda Hana: 23.07.2024

Edit History

  • Sayeeda Hana: 02.08.2024
  • Sayeeda Hana: 23.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.