NM_015072.4:c.1039T>C

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HGVS Expressions

  • NG_016974.1:g.64493T>C
  • NM_015072.4:c.1039T>C
  • NP_055887.3:p.Phe347Leu

Associated Genes

Tubulin Tyrosine Ligase-like Family, Member 5
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Genomic Location

chr14:75720700

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615860.1Saudi Arabia2Uncertain SignificanceCone-Rod Dystrophy 19Patel et al, 2018
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Contributors

  • Sayeeda Hana: 01.07.2020

Edit History

  • Rahila Mir: 22.02.2022
  • Sayeeda Hana: 08.01.2021
  • Sayeeda Hana: 01.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.