Transcript #00000665

Transcript name carnitine palmitoyltransferase 2
Gene name CPT2 (carnitine palmitoyltransferase 2)
Chromosome 1
Transcript - NCBI ID NM_000098.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000089.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.35del p.(Gly13Alafs*60) - - - -
./. - - c.51_52insCCGGGAGCCCCCAGTCGGC p.(Leu25Glyfs*40) - - - -
./. - - c.75del p.(Ser26Alafs*47) - - - -
./. - - c.94del p.(Gly32Alafs*41) - - - -
./. - - c.107_108insGC p.(Ser38Alafs*36) - - - -
./. - - c.149C>A p.(Pro50His) - - - -
+/+ - 1/5 c.149C>A p.(Pro50His) probably_damaging(0.99) missense_variant - deleterious(0)
+/+ - 3/5 c.338C>T p.(Ser113Leu) probably_damaging(0.98) missense_variant,splice_region_variant - deleterious(0)
./. - - c.338C>T p.(Ser113Leu) - - - -
./. - - c.359A>G p.(Tyr120Cys) - - - -
+/+ - 4/5 c.359A>G p.(Tyr120Cys) - missense_variant - -
./. - - c.370C>T p.(Arg124*) - - - -
./. - - c.448A>G p.(Thr150Ala) - - - -
+/+ - 4/5 c.520G>A p.(Glu174Lys) - missense_variant - -
./. - - c.520G>A p.(Glu174Lys) - - - -
./. - - c.606T>A p.(Tyr202*) - - - -
./. - - c.638A>G p.(Asp213Gly) - - - -
+/+ - 4/5 c.638A>G p.(Asp213Gly) - missense_variant - -
+/+ - 4/5 c.680C>T p.(Pro227Leu) - missense_variant - -
./. - - c.680C>T p.(Pro227Leu) - - - -
./. - - c.886C>T p.(Arg296*) - - - -
./. - - c.921G>A p.(Met307Ile) - - - -
./. - - c.1043_1044insA p.(Asn349Lysfs*5) - - - -
./. - - c.1053G>A p.(Trp351*) - - - -
./. - - c.1055T>G p.(Phe352Cys) - - - -
./. - - c.1148T>A p.(Phe383Tyr) - - - -
+/+ - 4/5 c.1148T>A p.(Phe383Tyr) - missense_variant - -
+/+ - - c.1238_1239del p.(Lys414Thrfs*7) - - - -
./. - - c.1238_1239del p.(Lys414Thrfs*7) - - - -
./. - - c.1342T>C p.(Phe448Leu) - - - -
+/+ - 4/5 c.1342T>C p.(Phe448Leu) - missense_variant - -
./. - - c.1345C>T p.(Gln449*) - - - -
./. - - c.1345delinsTA p.(Gln449*) - - - -
./. - - c.1348A>T p.(Arg450*) - - - -
./. - - c.1357_1360del p.(Lys453Asnfs*3) - - - -
./. - - c.1360G>T p.(Glu454*) - - - -
+/+ - 4/5 c.1360G>T p.(Glu454*) - stop_gained - -
./. - - c.1369A>T p.(Lys457*) - - - -
./. - - c.1414C>T p.(Gln472*) - - - -
./. - - c.1507C>T p.(Arg503Cys) - - - -
./. - - c.1545_1548del p.(Phe516Serfs*15) - - - -
./. - - c.1614C>A p.(Tyr538*) - - - -
./. - - c.1645+2T>G p.? - - - -
+?/+? - 5/5 c.1646G>A p.(Gly549Asp) probably_damaging(1) missense_variant,splice_region_variant - deleterious(0)
+/+ - 5/5 c.1657G>A p.(Asp553Asn) probably_damaging(0.978) missense_variant - tolerated(0.05)
./. - - c.1657G>A p.(Asp553Asn) - - - -
./. - - c.1774_1775del p.(Leu592Glufs*16) - - - -
./. - - c.1883A>C p.(Tyr628Ser) - - - -
+/+ - 5/5 c.1883A>C p.(Tyr628Ser) probably_damaging(0.987) missense_variant - deleterious(0)
+/+ - 5/5 c.1891C>T p.(Arg631Cys) benign(0.284) missense_variant - deleterious(0.01)
./. - - c.1891C>T p.(Arg631Cys) - - - -
./. - - c.1939A>G p.(Met647Val) - - - -
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