Table 8.

Selected Pathogenic Variants of WRAP53

DNA Nucleotide ChangeProtein Amino Acid ChangeReference SequencesLiterature Reference
c.492C>Ap.Phe164LeuNM_018081​.2 NP_060551​.2Zhong et al [2011]
c.1126C>T p.His376Tyr

Note on variant classification: Variants listed in the table have been provided by the author. 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​ See Quick Reference for an explanation of nomenclature.

From: Dyskeratosis Congenita

Cover of GeneReviews®
GeneReviews® [Internet].
Pagon RA, Adam MP, Ardinger HH, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2015.
Copyright © 1993-2015, University of Washington, Seattle. All rights reserved.

For more information, see the GeneReviews Copyright Notice and Usage Disclaimer.

For questions regarding permissions: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.