LOVD - Variant listings for PLOD1

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Patient data (#0000507)
Patient ID P6
Disease EDS VI
Reference Rohrbach et al., 2011
Template DNA
Technique PCR, SEQ
Remarks -
Ethnic origin Dutch

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 15i
DNA change c.1651-2A>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Splice site
Protein p.(Pro551_Lys585del)
RNA change -
Re-site +BssKI, -BseYI
DB-ID PLOD1_00039

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 (inferred) 15i c.1651-2A>G - Substitution Splice site p.(Pro551_Lys585del) - +BssKI, -BseYI PLOD1_00039
+/+ Maternal (inferred) 15i c.1651-2A>G - Substitution Splice site p.(Pro551_Lys585del) - +BssKI, -BseYI PLOD1_00039