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 (#0003524)
Patient ID AN_006102
Disease OI VIII
Reference United States:Houston
Template DNA
Technique CNGP
Remarks Diagnosed prenatally via U/S with OI. 5 fractures at age 21 months: bilateral femur fractures at least twice, bilateral ulnae, bilateral humerus, and a questionable skull fracture. Currently, at age 14, is ambulatory and plays sports.
Ethnic origin African American
Submitter Myla Ashfaq

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05i
DNA change c.1080+1G>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Splice site
Protein -
RNA change -
Re-site BslI +
DB-ID P3H1_00001

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 05i c.1080+1G>T - Substitution Splice site - - BslI + P3H1_00001
-/? Unknown 14 c.1948G>C - Substitution Missense p.Gly650Arg - - P3H1_00038