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 (#0002256)
Patient ID AN_002351
Disease OI
Reference China:Jinan
Template DNA
Technique PCR, SEQ
Remarks It is improbable that this is the disease-causing variant as this variant is too frequent in most populations to be associated with OI.
Ethnic origin -
Submitter Yanqin Lu

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably no pathogenicity
Exon 05
DNA change c.1045G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation effect Missense
Protein p.(Gly349Arg)
RNA change -
Re-site -
DB-ID P3H1_00025

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 05 c.1045G>A dbSNP Substitution Missense p.(Gly349Arg) - - P3H1_00025