LOVD - Variant listings for PLOD1

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Patient data (#0001818)
Patient ID P8
Disease EDS VI
Reference Micha et al., 2019
Template DNA
Technique PCR, SEQ
Remarks -
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 10i
DNA change c.1098-?_1328+?del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Multi-exon deletion
Protein p.Asp367_Val443del
RNA change -
Re-site -
DB-ID PLOD1_00051

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
+?/+? Unknown 4i c.467-2A>G - Substitution Splice site - - - PLOD1_00050
+?/+? Unknown 10i c.1098-?_1328+?del - Deletion Multi-exon deletion p.Asp367_Val443del - - PLOD1_00051