LOVD - Variant listings for PLOD3

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Patient data (#0001827)
Patient ID Patient 1
Disease -
Reference Ewans et al., 2019
Template DNA
Technique SEQ, WES
Remarks 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.
Ethnic origin Lebanese

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 08
DNA change c.809C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Pro270Leu
RNA change -
Re-site -
Frequency -
DB-ID PLOD3_00005

2 entries in PLOD3

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
+?/+? Maternal (confirmed) 08 c.809C>T - Substitution Missense p.Pro270Leu - - - PLOD3_00005
+?/+? Paternal (confirmed) 08 c.809C>T - Substitution Missense p.Pro270Leu - - - PLOD3_00005