LOVD - Variant listings for PLOD1

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Patient data (#0001826)
Patient ID Patient IV:3
Disease Kyphoscoliotic EDS
Reference Gok et al., 2012
Template DNA
Technique SEQ
Remarks The patient is the third child of non-consanguineous Turkish parents. He has two elder male siblings who did not display symptoms of kyphoscoliotic EDS.
Ethnic origin Turkish

Variant data
Allele Maternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 13
DNA change c.1362delC   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Frameshift
Protein p.Tyr455Thrfs*2
RNA change -
Re-site -
DB-ID PLOD1_00007

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) 13 c.1362delC - Deletion Frameshift p.Tyr455Thrfs*2 - - PLOD1_00007
+/+ Maternal (inferred) 13 c.1362delC - Deletion Frameshift p.Tyr455Thrfs*2 - - PLOD1_00007