Transcript #00016372 (NM_000302.3, PLOD1 gene)

Transcript name procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
Gene name PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1)
Chromosome 1
Transcript - NCBI ID NM_000302.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000293.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

262 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
+/. - c.-2794836_*665135del r.0? p.0? - -
+?/+? 10i c.(1097+1_1098-1)_(1328+1_1329-1)del r.(?) p.(Asp367_Val443del) deletion deletion
+?/+? 13i c.(1470+1_1471-1)_(1650+1_1651-1)del r.(?) p.(Asp491_Thr550del) deletion deletion
+/+ 17 c.[1760_1761delinsGA; 1775_1788del; 1790C>G] r.(?) p.[(Asn587Arg);Gly592Alafs*4;(Pro597Arg)] frameshift other/complex
+?/. - c.2T>C r.(?) p.0? - -
?/. - c.2T>C r.? p.? - -
-/. - c.76+17C>T r.(=) p.(=) - -
-?/. - c.76+264A>G r.(=) p.(=) - -
-?/. - c.77-3473C>T r.(=) p.(=) - -
-?/. - c.77-3383C>T r.(=) p.(=) - -
-?/. - c.77-3370G>A r.(=) p.(=) - -
-?/. - c.77-3358C>T r.(=) p.(=) - -
-?/. - c.77-3358C>T r.(=) p.(=) - -
-?/. - c.77-7T>C r.(=) p.(=) - -
-?/. - c.77-7T>C r.(=) p.(=) - -
-?/. - c.77-7T>C r.(=) p.(=) - -
?/. - c.109G>A r.(?) p.(Glu37Lys) - -
?/. - c.128G>A r.(?) p.(Arg43His) - -
-?/. - c.135G>A r.(?) p.(Lys45=) - -
?/. - c.136C>T r.(?) p.(Arg46Cys) - -
?/. - c.137G>A r.(?) p.(Arg46His) - -
-?/. - c.137G>A r.(?) p.(Arg46His) - -
+/+ 2 c.145C>T r.(?) p.(Gln49*) nonsense substitution
+/+ 2 c.153_154insC r.(?) p.(Asn52Glnfs*52) frameshift insertion
-?/. - c.168+6G>C r.(=) p.(=) - -
-?/. - c.169-310A>G r.(=) p.(=) - -
-/. - c.177C>T r.(?) p.(Gly59=) - -
-?/. - c.243G>A r.(?) p.(Leu81=) - -
-?/. - c.243G>A r.(?) p.(Leu81=) - -
+?/. - c.244A>T r.(?) p.(Lys82Ter) - -
+/+ 3 c.244A>T r.(?) p.(Lys82*) nonsense substitution
+/+ 3 c.244A>T r.(?) p.(Lys82*) nonsense substitution
-?/. - c.250G>A r.(?) p.(Ala84Thr) - -
-/. - c.250G>A r.(?) p.(Ala84Thr) - -
-?/. - c.250G>A r.(?) p.(Ala84Thr) - -
-?/. - c.250G>A r.(?) p.(Ala84Thr) - -
+/+ 3 c.254T>C r.(?) p.(Leu85Pro) missense substitution
-?/. - c.276G>A r.(?) p.(Glu92=) - -
-/. - c.294C>T r.(?) p.(Phe98=) - -
-/. - c.294C>T r.(?) p.(Phe98=) - -
-/- 3 c.294C>T r.(?) p.(=) silent substitution
-/. - c.295G>A r.(?) p.(Ala99Thr) - -
-/. - c.295G>A r.(?) p.(Ala99Thr) - -
-/- 3 c.295G>A r.(?) p.(Ala99Thr) missense substitution
+?/- 3 c.295G>A r.(?) p.(Ala99Thr) missense substitution
-?/. - c.302+15G>A r.(=) p.(=) - -
-?/. - c.302+79C>T r.(=) p.(=) - -
-?/. - c.303C>T r.(?) p.(Ser101=) - -
-?/. - c.303C>T r.(?) p.(Ser101=) - -
-?/. - c.303C>T r.(?) p.(Ser101=) - -
-?/. - c.303C>T r.(?) p.(Ser101=) - -
-/. - c.358G>T r.(?) p.(Ala120Ser) - -
-/. - c.358G>T r.(?) p.(Ala120Ser) - -
-/- 4 c.358G>T r.(?) p.(Ala120Ser) missense substitution
-/. - c.358G>T r.(?) p.(Ala120Ser) - -
?/. - c.376T>G r.(?) p.(Phe126Val) - -
-?/. - c.411G>A r.(?) p.(Arg137=) - -
-?/. - c.411G>A r.(?) p.(Arg137=) - -
?/. - c.412C>G r.(?) p.(Leu138Val) - -
+/+ 4 c.426T>A r.(?) p.(Tyr142*) nonsense substitution
+/+ 4i c.466+1G>A r.? - splicing affected? substitution
?/. - c.467-2A>G r.spl? p.? - -
+?/+? 4i c.467-2A>G r.? - splicing affected? substitution
+/+ 4i c.467-2del r.? - splicing affected? deletion
-?/. - c.508G>A r.(?) p.(Glu170Lys) - -
-?/. - c.508G>A r.(?) p.(Glu170Lys) - -
-?/. - c.509A>T r.(?) p.(Glu170Val) - -
-?/. - c.509A>T r.(?) p.(Glu170Val) - -
-?/. - c.535G>T r.(?) p.(Asp179Tyr) - -
?/. - c.535G>T r.(?) p.(Asp179Tyr) - -
-/. - c.540G>A r.(?) p.(Gln180=) - -
-?/. - c.555G>T r.(?) p.(Lys185Asn) - -
?/. - c.557T>C r.(?) p.(Ile186Thr) - -
?/. - c.567_572del r.(?) p.(Asp189_Pro190del) - -
+/+ 5i c.579+1G>A r.? - splicing affected? substitution
-?/. - c.579+17G>A r.(=) p.(=) - -
+/+ 6 c.622C>T r.(?) p.(Gln208*) nonsense substitution
-/. - c.644-17T>G r.(=) p.(=) - -
-/. - c.644-17T>G r.(=) p.(=) - -
-/- 6i c.644-17T>G r.(?) p.(=) silent substitution
?/. - c.652G>A r.(?) p.(Val218Met) - -
?/. - c.680G>A r.(?) p.(Arg227Lys) - -
+?/. - c.741G>A r.(?) p.(Lys247=) - -
-/- 7 c.741G>A r.? - silent substitution
-?/. - c.741+261C>T r.(=) p.(=) - -
-?/. - c.742-9C>G r.(=) p.(=) - -
-?/. - c.802A>G r.(?) p.(Thr268Ala) - -
-?/. - c.802A>G r.(?) p.(Thr268Ala) - -
-?/. - c.804C>T r.(?) p.(Thr268=) - -
-?/. - c.804C>T r.(?) p.(Thr268=) - -
?/. - c.805G>A r.(?) p.(Val269Met) - -
-?/. - c.843+17G>C r.(=) p.(=) - -
-?/. - c.844-16G>A r.(=) p.(=) - -
?/. - c.856C>T r.(?) p.(Pro286Ser) - -
-?/. - c.870C>T r.(?) p.(Val290=) - -
+/+ 9 c.926_934del r.(?) p.(Leu309_Leu311del) deletion deletion
?/. - c.952A>G r.(?) p.(Met318Val) - -
+/+ 9 c.955C>T r.(?) p.(Arg319*) nonsense substitution
+/+ 9 c.955C>T r.(?) p.(Arg319*) nonsense substitution
+/+ 9 c.955C>T r.(?) p.(Arg319*) nonsense substitution
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »