Table 2.

SLC20A2 Pathogenic Allelic Variants Discussed in This GeneReview

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
c.1802C>Tp.Ser601LeuNM_001257180​.1
NP_001244109​.1
c.1802C>Gp.Ser601Trp

Note on variant classification: Variants listed in the table have been provided by the authors. 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: Primary Familial Brain Calcification

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