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

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Patient data (#0002336)
Patient ID
Disease OI VIII
Reference Moul et al., 2013
Template DNA
Technique SEQ
Remarks The sequence variants are not presented by the authors in the paper, but were provided by the diagnostic laboratory. This patient was subsequently presented as patient 35 by Pepin et al., 2013.
Ethnic origin African-Colombian African-American

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05i
DNA change c.1080+1G>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Splice site
Protein -
RNA change -
Re-site BslI +
DB-ID P3H1_00001

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
+/+ Unknown 04 c.838C>T - Substitution Nonsense p.(Gln280*) - - LEPRE1_00036
+/+ Unknown 05i c.1080+1G>T - Substitution Splice site - - BslI + P3H1_00001