NM_002075.4:c.170_172del

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HGVS Expressions

  • NG_009100.2:g.7833_7835del;
  • NC_000012.12:g.6843043_6843045del
  • NM_002075.4:c.170_172del
  • NP_002066.1:p.Lys57del

Associated Genes

Guanine Nucleotide-Binding Protein, Beta-3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

879253774

Clinvar

242985

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617024.1.1Lebanon1PathogenicNight Blindness, Congenital Stationary, Type 1HVincent et al. 2016 Proband born to a Lebanese father and an...
617024.1.2Lebanon1PathogenicNight Blindness, Congenital Stationary, Type 1HVincent et al. 2016 Brother of 617024.1.1
617024.1.3Lebanon1Vincent et al. 2016 Father of 617024.1.1
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Contributors

  • Sayeeda Hana: 06.01.2021

Edit History

  • Sayeeda Hana: 07.01.2021
  • Sayeeda Hana: 06.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.