NM_004744.5:c.233_242del

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HGVS Expressions

  • NG_009110.1:g.5549_5558del
  • NM_004744.5:c.233_242del
  • NP_001288574.1:p.Leu78fs

Associated Genes

Lecithin Retinol Acyltransferase
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Genomic Location

chr4:154744559-154744568

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786205644

Clinvar

191324

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.9Saudi Arabia2PathogenicRetinitis PigmentosaPatel et al. 2016
613341.G.1Saudi Arabia4PathogenicLeber Congenital Amaurosis 14Patel et al, 2018 2 family members
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Contributors

  • Sayeeda Hana: 17.06.2020

Edit History

  • Sayeeda Hana: 19.08.2024
  • Sayeeda Hana: 05.10.2020
  • Sayeeda Hana: 17.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.