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 (#0004062)
Patient ID P9
Disease OI
Reference Mrosk et al., 2018
Template DNA
Technique SEQ
Remarks The patient was reported to be compound heterozygous, with both parents being carriers.
Ethnic origin Indian

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 08i
DNA change c.1346-1G>C   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Splice site
Protein -
RNA change -
Re-site -
DB-ID P3H1_00045

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 08i c.1346-1G>C - Substitution Splice site - - - P3H1_00045
+/+ Unknown 15 c.2143C>T - Substitution Nonsense p.(Gln715*) - - P3H1_00044