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 (#0004024)
Patient ID OI 14
Disease OI III
Reference Mohd Nawawi et al., 2018
Template DNA
Technique CGP
Remarks P3H1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype.
Ethnic origin Malaysian

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
DNA change c.26T>C   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Missense
Protein p.Leu9Pro
RNA change -
Re-site -
DB-ID P3H1_00041

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 01 c.26T>C - Substitution Missense p.Leu9Pro - - P3H1_00041