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 (#0000974)
Patient ID Proband 16
Disease OI III
Reference Baldridge et al., 2008, United States:Seattle
Template DNA
Technique PCR, SEQ
Remarks This patient was subsequently presented as patient 24 by Pepin et al., 2013.
Ethnic origin Asian Indian
Submitter Peter Byers

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 09
DNA change c.1383_1389dup   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation effect Frameshift
Protein p.(Lys464Glufs*19)
RNA change -
Re-site Hpy188I +
DB-ID P3H1_00010

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) 09 c.1383_1389dup - Duplication Frameshift p.(Lys464Glufs*19) - Hpy188I + P3H1_00010
+/+ Paternal (inferred) 09 c.1383_1389dup - Duplication Frameshift p.(Lys464Glufs*19) - Hpy188I + P3H1_00010