LOVD - Variant listings for PLOD1

About this overview [Show]

44 entries
entries per page

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
02 c.145C>T - Substitution Nonsense p.(Gln49*) - -BspCNI PLOD1_00020
02 c.153_154insC - Insertion Frameshift p.(Asn52Glnfs*52) - +Mmel PLOD1_00011
03 c.254T>C
  (Reported 2 times)
- Substitution Missense p.(Leu85Pro) - +MspI, -BpmI PLOD1_00035
03 c.294C>T dbSNP Substitution Silent p.(=) - +HpyCH4V PLOD1_00028
03 c.295G>A dbSNP Substitution Missense p.(Ala99Thr) - - PLOD1_00022
04 c.358G>T dbSNP Substitution Missense p.(Ala120Ser) - +Hpy188I PLOD1_00030
04 c.426T>A - Substitution Nonsense p.(Tyr142*) - +AgeI, -BciVI PLOD1_00017
04i c.466+1G>A
  (Reported 2 times)
- Substitution Splice site - - -MnlI, -HphI PLOD1_00036
04i c.467-2delA - Deletion Splice site - - +BslI, -Acul PLOD1_00010
05i c.579+1G>A - Substitution Splice site - - - PLOD1_00024
06 c.622C>T
  (Reported 2 times)
- Substitution Nonsense p.(Gln208*) - - PLOD1_00043
06i c.644-17T>G dbSNP Substitution Silent p.(=) - -HpyCH4III PLOD1_00025
09 c.955C>T
  (Reported 14 times)
- Substitution Nonsense p.(Arg319*) - +AflIII PLOD1_00001
09i c.975+2_975+3insTT
  (Reported 2 times)
- Insertion Exon deletion p.Asp282_His325del - -BbrPI, -PmlI PLOD1_00018
09i c.975+975_1755+?dup
  (Reported 39 times)
- Duplication Duplication p.Glu326_Lys585dup - +Eael, +SexAI PLOD1_00003
10 c.979C>T
  (Reported 3 times)
- Substitution Nonsense p.(Gln327*) - -Fnu4HI, -ApeKI PLOD1_00015
10 c.1033C>T
  (Reported 2 times)
- Substitution Nonsense p.(Gln345*) - +ScaI, -BsrI PLOD1_00037
10 c.1095C>T
  (Reported 3 times)
- Substitution Splice site - - -BstUI, -HinP1I PLOD1_00021
10i c.(1097+1_1098-1)_(1328+1_1329-1)del - Deletion In-frame deletion p.Asp367_Val443del - - PLOD1_00045
11 c.1103_1117del
  (Reported 2 times)
- Deletion In-frame deletion p.(Asp368_Gln372del) - +Mwol, -NaeI PLOD1_00019
11 c.1120_1756-1553del
  (Reported 2 times)
- Deletion Frameshift p.(Asp367Profs*34) - +BstUI, -EaeI PLOD1_00041
12 c.1206C>T dbSNP Substitution Silent p.(=) - -HpyCH4IV PLOD1_00026
12 c.1263dupT
  (Reported 2 times)
- Insertion Frameshift p.(Leu422Serfs*44) - -MwoI, -BanII PLOD1_00038
12 c.1302C>G
  (Reported 3 times)
- Substitution Nonsense p.(Tyr434*) - +BfaI PLOD1_00002
13 c.1336T>G
  (Reported 4 times)
- Substitution Missense p.(Trp446Gly) - - PLOD1_00013
13 c.1362delC
  (Reported 5 times)
- Deletion Frameshift p.(Tyr455Thrfs*2) - - PLOD1_00007
13i c.(1470+1_1471-1)_(1650+1_1651-1)del - Deletion In-frame deletion p.Asp491_Thr550del - - PLOD1_00046
13i c.1471-1G>A
  (Reported 2 times)
- Substitution Splice site - - -BssKI, -StyD4I PLOD1_00040
14 c.1533C>G
  (Reported 8 times)
- Substitution Nonsense p.(Tyr511*) - +NheI, +Bfal PLOD1_00012
14 c.1563G>A - Substitution Nonsense p.(Trp521*) - - PLOD1_00047
15 c.1594_1596del - Deletion In-frame deletion p.(Glu532del) - +MboII , -HpyAV PLOD1_00008
15 c.1632A>C dbSNP Substitution Silent p.(=) - +EaeI,+BssKI PLOD1_00027
15i c.1651-2A>G
  (Reported 2 times)
- Substitution Splice site p.(Pro551_Lys585del) - +BssKI, -BseYI PLOD1_00039
15i c.1651-2delA - Deletion Splice site p.(Pro551_Lys585del) - +MwoI, -BseYI PLOD1_00032
16 c.1677dupC
  (Reported 2 times)
- Duplication Frameshift p.(Ile560Hisfs*8) - - PLOD1_00014
16i c.1756-?_1902+?del
  (Reported 3 times)
- Deletion Exon deletion p.(Asp586_Arg634del) - +EaeI, +Fnu4HI PLOD1_00033
17 c.[1760_1761delACinsGA; 1775_1788del; 1790C>G] - Other/Complex Frameshift p.[(Asn587Arg);Gly592Alafs*4;(Pro597Arg)] - +Hgal, -Bsll PLOD1_00023
17 c.1836G>C - Substitution Missense p.(Trp612Cys) - -Mwol PLOD1_00006
17 c.1863_1864dup
  (Reported 2 times)
- Duplication Frameshift p.(Pro622Argfs*3) - - PLOD1_00042
18 c.1999G>A
  (Reported 2 times)
- Substitution Missense p.(Ala667Thr) - +HphI , -BtgZI PLOD1_00004
18 c.2008C>T - Substitution Nonsense p.(Arg670*) - +DdeI, -Bsll PLOD1_00016
18 c.2025C>G
  (Reported 2 times)
- Substitution Nonsense p.(Tyr675*) - - PLOD1_00044
19 c.2032G>A
  (Reported 3 times)
- Substitution Missense p.(Gly678Arg) - +AlwNI, -Faul PLOD1_00009
19 c.2117A>G
  (Reported 2 times)
- Substitution Missense p.(His706Arg) - +BstUI, +MluI PLOD1_00005
1 - 44

Legend: [ PLOD1 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. PLOD1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.