LOVD - Variant listings for PLOD1

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Patient data (#0000453)
Patient ID P5
Disease EDS VIA
Reference Giunta et al., 2005b
Template DNA
Technique PCR, SEQ
Remarks The paternal duplication variant was published by Heikkinen et al., 1997 (presumably as patient AB) whereas the maternal mutation remained undetectable at that time.
The maternal variant is incorrectly described as c.1253delC in Giunta et al., 2005b. The protein effect is also incorrect described in the same paper as p.Ile454IlefsX2. The paternal 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 Bosnian

Variant data
Allele Paternal (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
+/+ Paternal (confirmed) 09i c.975+975_1755+?dup - Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003
+/+ Maternal (confirmed) 13 c.1362delC - Deletion Frameshift p.(Tyr455Thrfs*2) - - PLOD1_00007