LOVD - Variant listings for PLOD1

About this overview [Show]

Patient data (#0000493)
Patient ID HR
Disease EDS VI
Reference Heikkinen et al., 1997
Template DNA, RNA
Technique PCR, RT-PCR, SEQ
Remarks -
Ethnic origin German

Variant data
Allele Parent #1
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
+/+ Parent #1 09i c.975+975_1755+?dup - Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003
+/+ Parent #2 17 c.[1760_1761delACinsGA; 1775_1788del; 1790C>G] - Other/Complex Frameshift p.[(Asn587Arg);Gly592Alafs*4;(Pro597Arg)] - +Hgal, -Bsll PLOD1_00023