View all transcript variants in 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.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium