Full data view for gene CPT2

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_000098.2 transcript reference sequence.

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

Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
./. - - c.35del p.(Gly13Alafs*60) - - - - Unknown - g.53662650del - - - CPT2_000039 MSCV_0015297 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.51_52insCCGGGAGCCCCCAGTCGGC p.(Leu25Glyfs*40) - - - - Unknown - g.53662666_53662667insCCGGGAGCCCCCAGTCGGC - - - CPT2_000015 MSCV_0015298 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.75del p.(Ser26Alafs*47) - - - - Unknown - g.53662690del - - - CPT2_000016 MSCV_0015299 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.94del p.(Gly32Alafs*41) - - - - Unknown - g.53662709del - - - CPT2_000017 MSCV_0015300 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.107_108insGC p.(Ser38Alafs*36) - - - - Unknown - g.53662722_53662723insGC - - - CPT2_000018 MSCV_0015301 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 1/5 c.149C>A p.(Pro50His) probably_damaging(0.99) missense_variant - deleterious(0) Unknown subst g.53662764C>A - 4.690 - CPT2_000011 MSCV_0000023 rs28936375 - ; clinvar; ensembl; 12410208;7711730 - - - - - - - - - - - - - - - - - - -
./. - - c.149C>A p.(Pro50His) - - - - Unknown - g.53662764C>A - - - CPT2_000011 MSCV_0000023 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 3/5 c.338C>T p.(Ser113Leu) probably_damaging(0.98) missense_variant,splice_region_variant - deleterious(0) Unknown subst g.53668099C>T - 5.880 - CPT2_000012 MSCV_0000024 rs74315294 - ; clinvar; ensembl; 10398215;8786066;8358442;8651281;23757202;736528 - - - - - - - - - - - - - - - - - - -
./. - - c.338C>T p.(Ser113Leu) - - - - Unknown - g.53668099C>T - - - CPT2_000012 MSCV_0000024 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 4/5 c.359A>G p.(Tyr120Cys) - missense_variant - - Unknown subst g.53675705A>G - 5.690 - CPT2_000013 MSCV_0000025 rs121918528 - ; clinvar; ensembl; 18550408 - - - - - - - - - - - - - - - - - - -
./. - - c.359A>G p.(Tyr120Cys) - - - - Unknown - g.53675705A>G - - - CPT2_000013 MSCV_0000025 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.370C>T p.(Arg124*) - - - - Unknown - g.53675716C>T - - - CPT2_000019 MSCV_0015305 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.448A>G p.(Thr150Ala) - - - - Unknown - g.53675794A>G - - - CPT2_000020 MSCV_0015306 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 4/5 c.520G>A p.(Glu174Lys) - missense_variant - - Unknown subst g.53675866G>A - 5.600 - CPT2_000008 MSCV_0000026 rs28936674 - ; clinvar; ensembl; 8682496 - - - - - - - - - - - - - - - - - - -
./. - - c.520G>A p.(Glu174Lys) - - - - Unknown - g.53675866G>A - - - CPT2_000008 MSCV_0000026 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.606T>A p.(Tyr202*) - - - - Unknown - g.53675952T>A - - - CPT2_000021 MSCV_0015308 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 4/5 c.638A>G p.(Asp213Gly) - missense_variant - - Unknown subst g.53675984A>G - 5.500 - CPT2_000009 MSCV_0000027 rs74315300 - ; clinvar; ensembl; 15622536 - - - - - - - - - - - - - - - - - - -
./. - - c.638A>G p.(Asp213Gly) - - - - Unknown - g.53675984A>G - - - CPT2_000009 MSCV_0000027 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 4/5 c.680C>T p.(Pro227Leu) - missense_variant - - Unknown subst g.53676026C>T - 5.500 - CPT2_000010 MSCV_0000028 rs74315298 - ; clinvar; ensembl; 18550408 - - - - - - - - - - - - - - - - - - -
./. - - c.680C>T p.(Pro227Leu) - - - - Unknown - g.53676026C>T - - - CPT2_000010 MSCV_0000028 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.886C>T p.(Arg296*) - - - - Unknown - g.53676232C>T - - - CPT2_000022 MSCV_0015311 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.921G>A p.(Met307Ile) - - - - Unknown - g.53676267G>A - - - CPT2_000023 MSCV_0015312 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1043_1044insA p.(Asn349Lysfs*5) - - - - Unknown - g.53676389_53676390insA - - - CPT2_000024 MSCV_0015313 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1053G>A p.(Trp351*) - - - - Unknown - g.53676399G>A - - - CPT2_000025 MSCV_0015314 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1055T>G p.(Phe352Cys) - - - - Unknown - g.53676401T>G - - - CPT2_000026 MSCV_0015315 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 4/5 c.1148T>A p.(Phe383Tyr) - missense_variant - - Unknown subst g.53676494T>A - 4.690 - CPT2_000007 MSCV_0000029 rs74315295 - ; clinvar; ensembl; 17709715;8682496 - - - - - - - - - - - - - - - - - - -
./. - - c.1148T>A p.(Phe383Tyr) - - - - Unknown - g.53676494T>A - - - CPT2_000007 MSCV_0000029 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - - c.1238_1239del p.(Lys414Thrfs*7) - - - - Unknown del g.53676584_53676585del - - - CPT2_000003 MSCV_0000030 rs397509431 - ; clinvar; 10090476;11477613;12410208 - - - - - - - - - - - - - - - - - - -
./. - - c.1238_1239del p.(Lys414Thrfs*7) - - - - Unknown - g.53676584_53676585del - - - CPT2_000003 MSCV_0000030 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 4/5 c.1342T>C p.(Phe448Leu) - missense_variant - - Unknown subst g.53676688T>C - 5.780 - CPT2_000004 MSCV_0000031 rs74315297 - ; clinvar; ensembl; 12410208;10090476;11477613 - - - - - - - - - - - - - - - - - - -
./. - - c.1342T>C p.(Phe448Leu) - - - - Unknown - g.53676688T>C - - - CPT2_000004 MSCV_0000031 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1345C>T p.(Gln449*) - - - - Unknown - g.53676691C>T - - - CPT2_000027 MSCV_0015319 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1345delinsTA p.(Gln449*) - - - - Unknown - g.53676691delinsTA - - - CPT2_000028 MSCV_0015320 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1348A>T p.(Arg450*) - - - - Unknown - g.53676694A>T - - - CPT2_000029 MSCV_0015321 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1357_1360del p.(Lys453Asnfs*3) - - - - Unknown - g.53676703_53676706del - - - CPT2_000030 MSCV_0015322 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 4/5 c.1360G>T p.(Glu454*) - stop_gained - - Unknown subst g.53676706G>T - 4.870 - CPT2_000005 MSCV_0000032 rs74315299 - ; clinvar; ensembl; 15622536 - - - - - - - - - - - - - - - - - - -
./. - - c.1360G>T p.(Glu454*) - - - - Unknown - g.53676706G>T - - - CPT2_000005 MSCV_0000032 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1369A>T p.(Lys457*) - - - - Unknown - g.53676715A>T - - - CPT2_000033 MSCV_0015324 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1414C>T p.(Gln472*) - - - - Unknown - g.53676760C>T - - - CPT2_000034 MSCV_0015325 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1507C>T p.(Arg503Cys) - - - - Unknown - g.53676853C>T - - - CPT2_000035 MSCV_0015326 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1545_1548del p.(Phe516Serfs*15) - - - - Unknown - g.53676891_53676894del - - - CPT2_000036 MSCV_0015327 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1614C>A p.(Tyr538*) - - - - Unknown - g.53676960C>A - - - CPT2_000037 MSCV_0015328 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1645+2T>G p.? - - - - Unknown - g.53676993T>G - - - CPT2_000038 MSCV_0015329 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+?/+? - 5/5 c.1646G>A p.(Gly549Asp) probably_damaging(1) missense_variant,splice_region_variant - deleterious(0) Unknown subst g.53678936G>A - 5.900 - CPT2_000014 MSCV_0001809 rs186044004 - ; ensembl; - - - - - - - - - - - - - - - - - - - -
+/+ - 5/5 c.1657G>A p.(Asp553Asn) probably_damaging(0.978) missense_variant - tolerated(0.05) Unknown subst g.53678947G>A - 5.900 - CPT2_000006 MSCV_0000033 rs28936376 - ; clinvar; ensembl; 7711730 - - - - - - - - - - - - - - - - - - -
./. - - c.1657G>A p.(Asp553Asn) - - - - Unknown - g.53678947G>A - - - CPT2_000006 MSCV_0000033 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1774_1775del p.(Leu592Glufs*16) - - - - Unknown - g.53679064_53679065del - - - CPT2_000031 MSCV_0015331 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 5/5 c.1883A>C p.(Tyr628Ser) probably_damaging(0.987) missense_variant - deleterious(0) Unknown subst g.53679173A>C - 5.900 - CPT2_000001 MSCV_0000034 rs28936673 - ; clinvar; ensembl; 8651281;10398215;1999498 - - - - - - - - - - - - - - - - - - -
./. - - c.1883A>C p.(Tyr628Ser) - - - - Unknown - g.53679173A>C - - - CPT2_000001 MSCV_0000034 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 5/5 c.1891C>T p.(Arg631Cys) benign(0.284) missense_variant - deleterious(0.01) Unknown subst g.53679181C>T - 5.900 - CPT2_000002 MSCV_0000035 rs74315293 - ; clinvar; ensembl; 1528846;8358442 - - - - - - - - - - - - - - - - - - -
./. - - c.1891C>T p.(Arg631Cys) - - - - Unknown - g.53679181C>T - - - CPT2_000002 MSCV_0000035 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1939A>G p.(Met647Val) - - - - Unknown - g.53679229A>G - - - CPT2_000032 MSCV_0015334 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium