NM_004183.4:c.209A>G

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  2. NM_004183.4:c.209A>G

HGVS Expressions

  • NG_009033.1:g.10280A>G
  • NM_004183.4:c.209A>G
  • NP_004174.1:p.Asp70Gly

Associated Genes

Bestrophin 1
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Genomic Location

chr11:61955163

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

749295558

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611809.1.1Lebanon2PathogenicBestrophinopathy, Autosomal RecessiveJaffal et al, 2019 Proband
611809.1.2Lebanon1PathogenicBestrophinopathy, Autosomal RecessiveJaffal et al, 2019 Son of 611809.1.1
611809.1.3Lebanon1PathogenicBestrophinopathy, Autosomal RecessiveJaffal et al, 2019 Son of 611809.1.1
611809.1.4Lebanon1Jaffal et al, 2019 Mother of 611809.1.1
611809.1.6Lebanon1Jaffal et al, 2019 Sister of 611809.1.1
611809.1.7Lebanon1Jaffal et al, 2019 Son of 611809.1.1
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Contributors

  • Sayeeda Hana: 25.09.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 26.09.2020
  • Sayeeda Hana: 25.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.