LOVD - Variant listings for PLOD1

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Patient data (#0001817)
Patient ID P7
Disease EDS VI
Reference Micha et al., 2019
Template DNA
Technique PCR, SEQ
Remarks The authors state that they a deep intronic variant is expected to have been missed in this patient.
Ethnic origin -

Variant data
Allele Maternal (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