Table 2. Selected SLC45A2 Pathologic Allelic Variants

DNA Nucleotide Change Protein Amino Acid ChangeReference Sequences
c.469G>Ap.Asp157AsnNM_016180​.3
NP_057264​.3
c.563G>Tp.Gly188Val

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: Oculocutaneous Albinism Type 4

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