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 (#0000970)
Patient ID Proband 12
Disease OI II/III
Reference Baldridge et al., 2008, United States:Seattle
Template DNA
Technique PCR, SEQ
Remarks This patient was subsequently presented as patient 6 by Pepin et al., 2013.
Ethnic origin African American
Submitter Peter Byers

Variant data
Allele Maternal (inferred)
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
+/+ Maternal (inferred) 05i c.1080+1G>T - Substitution Splice site - - BslI + P3H1_00001
+/+ Paternal (inferred) 05i c.1080+1G>T - Substitution Splice site - - BslI + P3H1_00001