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The PLOD1 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 (#0000479)
||Yeowell et al., 2000|
||PCR, RT-PCR, SEQ|
||The PLOD1 substitution variant is incorrectly described as 2032C>T in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252.|
A prenatal diagnosis on the patient's male sibling was carried out. This too is reported in Yeowell et al., 2000 and the outcome of the assessment revealed that the fetus had inherited the mutated paternal allele and a normal non-mutated allele from the mother. Although a carrier of this disease, the individual was born healthy.
||c.975+975_1755+?dup (View in UCSC Genome Browser, Ensembl)|