Table 7.

Pathogenic Variants Referenced in This GeneReview by Gene

GeneReference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
HPSE2 NM_021828​.4
NP_068600​.4 		c.1465_1466delAAp.Asn489ProfsTer126Common variant in persons of Irish ancestry [Daly et al 2010, Pang et al 2010]
c.1516C>Tp.Arg506TerFounder variant in Colombian population [Pang et al 2010]

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.

From: Urofacial Syndrome

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