Table 11.

RD3 Pathologic Allelic Variants Discussed in This GeneReview

DNA Nucleotide Change Protein Amino Acid ChangeReference Sequences
c.296+1G>A--NM_183059​.2
NP_898882​.1

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

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

From: Leber Congenital Amaurosis

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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