NM_001023570.3:c.1479C>A

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HGVS Expressions

  • NG_015887.1:g.67434A>G
  • NM_001023570.3:c.1479C>A
  • NP_001018864.2:p.Tyr493Ter

Associated Genes

IQ Motif-Containing Protein B1
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Genomic Location

chr3:121772645

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1395016609

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.4Saudi Arabia2PathogenicLeber Congenital Amaurosis 1Wang et al. 2011
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Contributors

  • Sayeeda Hana: 20.07.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 20.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.