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The PLOD3 mutation data have been added to a new database.
|About this overview [Show]
|This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.|
|Patient data (#0001827)
||Ewans et al., 2019|
||The proband is described as having a connective tissue disorder with a unique phenotype which overlaps several known collagen disorders including Stickler syndrome, kyphoscoliotic EDS, musculocontractural EDS, and epidermolysis bullosa. The proband (29M) was born to consanguineous parents, and had two siblings who also displayed a similar phenotype. The homozygous variant cosegregated with phenotype in their family, being absent in an unaffected sibling and heterozygous in the parents. |
||c.809C>T (View in UCSC Genome Browser, Ensembl)|