LOVD - Variant listings for PLOD1

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Patient data (#0000450)
Patient ID P3
Disease EDS VIA
Reference Giunta et al., 2005b
Template DNA
Technique CSGE
Remarks The consanguinity of parents of the patient is unknown. The PLOD1 variant is incorrectly described as c.1067_1846dup in Giunta et al., 2005b. The actual variant details have been confirmed with the authors.
Ethnic origin Albanian

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 09i
DNA change c.975+975_1755+?dup   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation Effect Duplication
Protein p.Glu326_Lys585dup
RNA change -
Re-site +Eael, +SexAI
DB-ID PLOD1_00003

2 entries in PLOD1

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
DB-ID Descending
Ascending
+/+ Maternal (confirmed) 09i c.975+975_1755+?dup - Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003
+/+ Paternal (confirmed) 09i c.975+975_1755+?dup - Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003