LOVD - Variant listings for PLOD1

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Patient data (#0000459)
Patient ID AR
Disease EDS VIA
Reference Heikkinen et al., 1997
Template DNA
Technique PCR, SEQ, Southern
Remarks The parents of the patient are first cousins. The patient has two clinically healthy sisters, of whom one was found to be a carrier for the duplicated allele in an enzyme assay reported in Heikkinen et al., 1997.
Ethnic origin Iranian

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