Table 6.

Notable FKBP14 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_017946​.3
NP_060416​.1
c.573_575delp.Glu191delOnly in-frame variant reported [Dordoni et al 2016]
c.362dupCp.Glu122ArgfsTer7Common pathogenic variant [Baumann et al 2012, Dordoni et al 2016, Giunta et al 2018a, Castori et al 2019]
c.143T>Ap.Met48LysMissense change reported near PPIase active site [Giunta et al 2018a]

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: FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

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