NM_004744.5:c.241_242del

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HGVS Expressions

  • NG_009110.1:g.5557_5558del
  • NM_004744.5:c.241_242del
  • NP_001288574.1:p.Leu81fs
  • NC_000004.12:g.154744567_154744568del

Associated Genes

Lecithin Retinol Acyltransferase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

978974

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613341.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 14Patel et al, 2018
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Contributors

  • Sayeeda Hana: 17.06.2020

Edit History

  • Pratibha Nair: 09.11.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 17.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.