NM_004183.4:c.1403C>T

HGVS Expressions

  • NG_009033.1:g.17674C>T
  • NM_004183.4:c.1403C>T
  • NP_004174.1:p.Pro468Leu
  • NC_000011.10:g.61962557C>T

Associated Genes

Bestrophin 1
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1297719

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
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
611809.1.5Lebanon1Jaffal et al, 2019 Husband of 611809.1.1
611809.3.1Lebanon2PathogenicBestrophinopathy, Autosomal RecessiveJaffal et al, 2019 Proband
611809.3.2Lebanon2PathogenicBestrophinopathy, Autosomal RecessiveJaffal et al, 2019 Sister of 611809.3.1
611809.3.3Lebanon1Jaffal et al, 2019 Father of 611809.3.1
611809.3.4Lebanon1Jaffal et al, 2019 Mother of 611809.3.1
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