LOVD - Variant listings for PLOD1

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Patient data (#0000484)
Patient ID CRL 1195
Disease EDS VIA
Reference Pousi et al., 1994
Template DNA, RNA
Technique PCR, RT-PCR, SEQ, Southern
Remarks This patient was originally analyzed and clinically described by Sussman et al., 1974. This patient also has an affected brother, described as Case 2 in Sussman et al., 1974. The patient is also mentioned subsequently by Heikkinen et al., 1997 clarifying the ethnic origin.
Ethnic origin Caucasian (American)

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