Table 5.

Notable COL4A5 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment
NM_000495​.3
NP_000486​.1 		c.4692G>Ap.Cys1564SerCommon in the United States
c.4946T>Gp.Leu1649Arg
c.5030G>Ap.Arg1677Gln

Variants listed in the table have been provided by the author. 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.

From: Alport Syndrome

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