NM_181714.4:c.923del

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  2. NM_181714.4:c.923del

HGVS Expressions

  • NG_016011.1:g.49848del
  • NM_181714.4:c.923del
  • NP_859065.2:p.Asn308IlefsTer8
  • NC_000006.12:g.79492585del

Associated Genes

Leberilin LCA5
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604537.1United Arab Emirates2Likely PathogenicLeber Congenital Amaurosis 5Khan. 2020
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Contributors

  • Asha Deepthi: 25.05.2021

Edit History

  • Pratibha Nair: 06.12.2022
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 25.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.