LOVD - Variant listings for PLOD3

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Patient data (#0001828)
Patient ID
Disease -
Reference Vahidnezhad et al., 2018
Template DNA
Technique SEQ, WES
Remarks This patient (4.5M) carries a recessive dystrophic EB-like phenotype with additional symptoms of scoliosis and flexion contractions in elbows and joints, with a homozygous variant in PLOD3. They have consanguineous parents, who are both heterozygous for the variant. No variants were found in the gene panel of 20 EB-associated genes, or in COL7A1.
Ethnic origin Iranian

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 17
DNA change c.1880T>C   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Leu627Pro
RNA change -
Re-site -
Frequency -
DB-ID PLOD3_00006

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) 17 c.1880T>C - Substitution Missense p.Leu627Pro - - - PLOD3_00006
+?/+? Paternal (confirmed) 17 c.1880T>C - Substitution Missense p.Leu627Pro - - - PLOD3_00006