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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 3.

Notable BEST1 Pathogenic Variants

Reference
Sequences
DNA Nucleotide
Change
Predicted
Protein Change
Comment [Reference]
NM_004183​.3
NP_004174​.1
c.383G>Cp.Trp93CysPersons who trace their ancestry to a large Swedish kindred [Petrukhin et al 19981
c.266T>Cp.Val89AlaAssoc w/mild or late-onset disease (See Genotype-Phenotype Correlations.)
c.679T>Ap.Tyr227Asn
c.728C>Tp.Ala243Val

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Described as "pedigree S1" [Petrukhin et al 1998]

From: Bestrophinopathies

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