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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67 entries
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Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

dbSNP Hide dbSNP column Descending
Ascending

Type Hide Type column Descending
Ascending

Mutation effect Hide Mutation effect column Descending
Ascending

Protein Hide Protein column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending
01 c.9dupA
  (Reported 2 times)
- Duplication Frameshift p.(Arg4Thrfs*33) - - P3H1_00037
01 c.95_99delinsA - Insertion/Deletion Frameshift p.(Met32Lysfs*24) - - LEPRE1_00045
01 c.105_120del - Deletion Frameshift p.(Asp36Argfs*16) - - P3H1_00035
01 c.138C>A
  (Reported 2 times)
- Substitution Nonsense c.(Tyr46*) - - LEPRE1_00055
01 c.232delC
  (Reported 7 times)
- Deletion Frameshift p.(Gln78Serfs*30) - - P3H1_00005
01 c.392C>A
  (Reported 2 times)
- Substitution Nonsense p.(Ser131*) - - P3H1_00006
01 c.401_402del
  (Reported 2 times)
- Deletion Frameshift p.(Glu134Glyfs*41) - - LEPRE1_00026
01 c.439_441del
  (Reported 2 times)
- Deletion In-frame deletion p.(Asn147del) - - LEPRE1_00037
02 c.484del - Deletion Frameshift p.(Ala162Leufs*22) - - LEPRE1_00031
02 c.570_571del
  (Reported 2 times)
- Deletion Frameshift p.(Gly191Serfs*10) - - LEPRE1_00038
02i c.618+1G>A - Substitution Splice site - - - LEPRE1_00046
03 c.628C>T
  (Reported 2 times)
- Substitution Nonsense p.(Arg210*) - - P3H1_00015
03 c.747delC - Deletion Frameshift p.(Tyr250Metfs*87) - NlaIV - P3H1_00003
03 c.765C>A
  (Reported 2 times)
- Substitution Nonsense p.(Tyr255*) - - P3H1_00009
04 c.838C>T - Substitution Nonsense p.(Gln280*) - - LEPRE1_00036
04 c.927delT
  (Reported 2 times)
- Deletion Frameshift p.(Phe309Leufs*28) - - LEPRE1_00035
04 c.933C>G
  (Reported 2 times)
- Substitution Nonsense p.(Tyr311*) - - P3H1_00007
05 c.1045G>A
  (Reported 2 times)
dbSNP Substitution Missense p.(Gly349Arg) - - P3H1_00025
05i c.1080+1G>T
  (Reported 60 times)
- Substitution Splice site - - BslI + P3H1_00001
06 c.1087A>G - Substitution Missense p.(Lys363Glu) - - P3H1_00026
06 c.1102C>T - Substitution Nonsense p.(Arg368*) - - P3H1_00016
06 c.1120G>T
  (Reported 3 times)
- Substitution Nonsense p.(Glu374*) - - LEPRE1_00039
06 c.1170G>A - Substitution Splice site - - - LEPRE1_00052
06i c.1170+2T>A
  (Reported 2 times)
- Substitution Splice site - - - P3H1_00012
06i c.1170+5G>C
  (Reported 7 times)
- Substitution Splice site - - - P3H1_00013
07 c.1223+2T>G
  (Reported 2 times)
- Substitution Splice site - - - LEPRE1_00034
08 c.1244dup - Duplication Frameshift p.(Arg416Thrfs*40) - - LEPRE1_00054
08 c.1300G>T - Substitution Nonsense p.(Glu434*) - - LEPRE1_00051
08 c.1345G>A
  (Reported 2 times)
- Substitution Missense p.(Gly449Ser) - - LEPRE1_00040
08 c.1345G>C
  (Reported 2 times)
- Substitution Missense p.(Gly449Arg) - - LEPRE1_00041
09 c.1346-340_1473+36del
  (Reported 4 times)
- Deletion Frameshift - - - P3H1_00011
09 c.1365_1366delinsC
  (Reported 2 times)
- Insertion/Deletion Frameshift p.(Glu455Aspfs*7) - - P3H1_00014
09 c.1383_1389dup
  (Reported 3 times)
- Duplication Frameshift p.(Lys464Glufs*19) - Hpy188I + P3H1_00010
09 c.1459C>T - Substitution Nonsense p.(Gln487*) - - LEPRE1_00053
09 c.1466T>C - Substitution Missense p.(Leu489Pro) - - LEPRE1_00027
09i c.1473+1G>T - Substitution Splice site - - MseI + P3H1_00002
09i c.1473+3A>C - Substitution Splice site - - - LEPRE1_00029
10 c.1501C>T - Substitution Missense p.(Arg501Trp) - - P3H1_00029
10 c.1517C>G dbSNP Substitution Missense p.(Pro506Arg) - - P3H1_00024
10 c.1554_1555del - Deletion Frameshift :p.(Phe519Glnfs*63) - - LEPRE1_00047
11 c.1647G>A
  (Reported 2 times)
dbSNP Substitution Missense p.(Met549Ile) - - P3H1_00023
11 c.1656C>A
  (Reported 2 times)
- Substitution Nonsense p.(Tyr552*) - Tsp509I + P3H1_00004
11 c.1675dupC - Duplication Frameshift p.(Leu559Profs*24) - - LEPRE1_00030
11 c.1716C>T dbSNP Substitution Silent p.(=) - - P3H1_00022
11i c.1720+5G>A - Substitution Splice site - - - LEPRE1_00048
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
13 c.1881_1882del
  (Reported 3 times)
- Deletion Frameshift p.(Phe627Leufs*4) - - LEPRE1_00042
13i c.1914+1G>A
  (Reported 2 times)
- Substitution Splice site - - - LEPRE1_00044
13i c.1915-20T>G - Substitution Other - - - P3H1_00032
13i c.1915-1G>A - Substitution Splice site - - - LEPRE1_00028
14 c.1924_1934del - Deletion Frameshift p.(Gln642Trpfs*11) - BslI - P3H1_00018
14 c.1930C>A dbSNP Substitution Missense p.(Gln644Lys) - - P3H1_00020
14 c.1948G>C - Substitution Missense p.Gly650Arg - - P3H1_00038
14 c.1996delA - Deletion Frameshift p.(Arg666Glyfs*29) - - LEPRE1_00049
14 c.2014dup
  (Reported 2 times)
- Duplication Frameshift p.(Ile672Asnfs*21) - - LEPRE1_00043
14 c.2024G>T - Substitution Missense p.(Trp675Leu) - - P3H1_00027
14 c.2041C>T
  (Reported 6 times)
- Substitution Nonsense p.(Arg681*) - - P3H1_00008
14i c.2055+17C>T - Substitution Other - - - P3H1_00033
14i c.2055+18G>A
  (Reported 3 times)
- Substitution Splice site - - - P3H1_00017
14i c.2055+74T>A - Substitution Other - - - P3H1_00034
14i c.2056-1G>A
  (Reported 2 times)
- Substitution Splice site - - - LEPRE1_00033
15 c.2148_2149delinsA - Insertion/Deletion Frameshift p.(Glu719Asnfs*29) - - LEPRE1_00050
15 c.2155dupC - Duplication Frameshift p.(Glu719Glyfs*11) - - LEPRE1_00032
15 c.2164C>T - Substitution Nonsense p.(Gln722*) - - P3H1_00036
15 c.*73C>T dbSNP Substitution UTR variant - - - P3H1_00019
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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.