LOVD - Variant listings for PLOD1

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Patient data (#0001821)
Patient ID P2
Disease Kyphoscoliotic EDS
Reference van Dijk et al., 2017
Template DNA
Technique CNGP, SEQ
Remarks -
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 07
DNA change c.741G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Silent
Protein -
RNA change -
Re-site -
DB-ID PLOD1_00053

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 07 c.741G>A - Substitution Silent - - - PLOD1_00053
+?/+? Unknown 09i c.975+975_1755+?dup - Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003