LOVD - Variant listings for PLOD1

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Patient data (#0001816)
Patient ID
Disease Kyphoscoliotic EDS
Reference Shin et al., 2020
Template DNA
Technique CNGP, PCR, SEQ
Remarks Compound heterozygous variants resulting in a kyphoscoliotic EDS phenotype were found in two korean siblings.
Ethnic origin Korean

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 09
DNA change c.926_934del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect In-frame deletion
Protein p.Leu309_Leu311del
RNA change -
Re-site -
DB-ID PLOD1_00048

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 (confirmed) 09 c.926_934del - Deletion In-frame deletion p.Leu309_Leu311del - - PLOD1_00048
+?/+? Maternal (confirmed) 19 c.2170_2172del - Deletion In-frame deletion p.Phe724del - - PLOD1_00049