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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

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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14 entries
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Exon Hide Exon column Descending

DNA change   Descending

dbSNP Hide dbSNP column Descending

Type Hide Type column Descending

Mutation effect Hide Mutation effect column Descending

Protein Hide Protein column Descending

RNA change Hide RNA change column Descending

Re-site Hide Re-site column Descending

DB-ID Hide DB-ID column Descending
05 c.1045G>A
  (Reported 2 times)
dbSNP Substitution Missense p.(Gly349Arg) - - P3H1_00025
10 c.1501C>T - Substitution Missense p.(Arg501Trp) - - P3H1_00029
10 c.1517C>G dbSNP Substitution Missense p.(Pro506Arg) - - P3H1_00024
11 c.1647G>A
  (Reported 2 times)
dbSNP Substitution Missense p.(Met549Ile) - - P3H1_00023
11 c.1716C>T dbSNP Substitution Silent p.(=) - - P3H1_00022
11i c.1720+52C>T - Substitution Other - - - P3H1_00028
12 c.1812C>T
  (Reported 2 times)
dbSNP Substitution Silent p.(Pro604=) - - P3H1_00021
12i c.1839-30G>A - Substitution Other - - - P3H1_00031
13i c.1915-20T>G - Substitution Other - - - P3H1_00032
14 c.1930C>A dbSNP Substitution Missense p.(Gln644Lys) - - P3H1_00020
14 c.1948G>C - Substitution Missense p.Gly650Arg - - P3H1_00038
14i c.2055+17C>T - Substitution Other - - - P3H1_00033
14i c.2055+74T>A - Substitution Other - - - P3H1_00034
15 c.*73C>T dbSNP Substitution UTR variant - - - P3H1_00019
1 - 14

Legend: [ P3H1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. P3H1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.