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 (#0002940)
Patient ID P2
Disease OI III
Reference Barbirato et al., 2015
Template DNA
Technique PCR, SEQ, SSCA
Remarks The parents of the proband are reported not to be consanguineous. Only one P3H1 variant was detected in the proband in spite of all exons of P3H1 being sequenced.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 06
DNA change c.1087A>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Missense
Protein p.(Lys363Glu)
RNA change -
Re-site -
DB-ID P3H1_00026

1 entry 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 06 c.1087A>G - Substitution Missense p.(Lys363Glu) - - P3H1_00026