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.1192C>Tp.Arg398Trp
c.1126C>T p.His376Tyr
c.1303G>Ap.Gly435Arg

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​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: Dyskeratosis Congenita

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