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 (#0001992)
Patient ID Proband 1
Disease OI III
Reference Zhang et al., 2011
Template DNA
Technique PCR, SEQ
Remarks -
Ethnic origin Han Chinese

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 09
DNA change c.1466T>C   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Missense
Protein p.(Leu489Pro)
RNA change -
Re-site -
DB-ID LEPRE1_00027

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 09 c.1466T>C - Substitution Missense p.(Leu489Pro) - - LEPRE1_00027
+/+ Unknown 13i c.1915-1G>A - Substitution Splice site - - - LEPRE1_00028