The symbol and name for this gene were previously LEPRE1 and leucine proline-enriched proteoglycan (leprecan) 1. These changes were made in December 2014.
LOVD - Variant listings for P3H1

About this overview [Show]

Patient data (#0002303)
Patient ID AN_002111
Disease Bruck syndrome type 3
Reference Caparrós-Martin et al., 2013, Spain:Madrid
Template DNA
Technique SEQ
Remarks Family 2, patient 2. The patient's younger sister (AN_002112) also harbours the same variants.
Ethnic origin Spanish
Submitter Victor L Ruiz-Perez

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 04
DNA change c.927delT   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation effect Frameshift
Protein p.(Phe309Leufs*28)
RNA change -
Re-site -
DB-ID LEPRE1_00035

2 entries in P3H1

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
+/+ Maternal (confirmed) 04 c.927delT - Deletion Frameshift p.(Phe309Leufs*28) - - LEPRE1_00035
+/+ Paternal (confirmed) 04 c.927delT - Deletion Frameshift p.(Phe309Leufs*28) - - LEPRE1_00035