NM_201253.3:c.3447G>C

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HGVS Expressions

  • NG_008483.2:g.238849G>C
  • NM_201253.3:c.3447G>C
  • NP_957705.1:p.Leu1149Phe
  • NC_000001.11:g.197435310G>C

Associated Genes

Crumbs, Drosophila, Homolog of, 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613835.5United Arab Emirates1Likely PathogenicLeber Congenital Amaurosis 8Khan. 2020
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Contributors

  • Asha Deepthi: 19.05.2021

Edit History

  • Pratibha Nair: 24.01.2023
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 19.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.