Unique variants in gene CPT2

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ 1 - 1/5 c.149C>A p.(Pro50His) probably_damaging(0.99) missense_variant - deleterious(0) subst g.53662764C>A - 4.690 - CPT2_000011 rs28936375 - ; clinvar; ensembl; 12410208;7711730 - - LOVD
+/+ 1 - 3/5 c.338C>T p.(Ser113Leu) probably_damaging(0.98) missense_variant,splice_region_variant - deleterious(0) subst g.53668099C>T - 5.880 - CPT2_000012 rs74315294 - ; clinvar; ensembl; 10398215;8786066;8358442;8651281;23757202;736528 - - LOVD
+/+ 1 - 4/5 c.359A>G p.(Tyr120Cys) - missense_variant - - subst g.53675705A>G - 5.690 - CPT2_000013 rs121918528 - ; clinvar; ensembl; 18550408 - - LOVD
+/+ 1 - 4/5 c.520G>A p.(Glu174Lys) - missense_variant - - subst g.53675866G>A - 5.600 - CPT2_000008 rs28936674 - ; clinvar; ensembl; 8682496 - - LOVD
+/+ 1 - 4/5 c.638A>G p.(Asp213Gly) - missense_variant - - subst g.53675984A>G - 5.500 - CPT2_000009 rs74315300 - ; clinvar; ensembl; 15622536 - - LOVD
+/+ 1 - 4/5 c.680C>T p.(Pro227Leu) - missense_variant - - subst g.53676026C>T - 5.500 - CPT2_000010 rs74315298 - ; clinvar; ensembl; 18550408 - - LOVD
+/+ 1 - 4/5 c.1148T>A p.(Phe383Tyr) - missense_variant - - subst g.53676494T>A - 4.690 - CPT2_000007 rs74315295 - ; clinvar; ensembl; 17709715;8682496 - - LOVD
+/+ 1 - - c.1238_1239del p.(Lys414Thrfs*7) - - - - del g.53676584_53676585del - - - CPT2_000003 rs397509431 - ; clinvar; 10090476;11477613;12410208 - - LOVD
+/+ 1 - 4/5 c.1342T>C p.(Phe448Leu) - missense_variant - - subst g.53676688T>C - 5.780 - CPT2_000004 rs74315297 - ; clinvar; ensembl; 12410208;10090476;11477613 - - LOVD
+/+ 1 - 4/5 c.1360G>T p.(Glu454*) - stop_gained - - subst g.53676706G>T - 4.870 - CPT2_000005 rs74315299 - ; clinvar; ensembl; 15622536 - - LOVD
+?/+? 1 - 5/5 c.1646G>A p.(Gly549Asp) probably_damaging(1) missense_variant,splice_region_variant - deleterious(0) subst g.53678936G>A - 5.900 - CPT2_000014 rs186044004 - ; ensembl; - - - LOVD
+/+ 1 - 5/5 c.1657G>A p.(Asp553Asn) probably_damaging(0.978) missense_variant - tolerated(0.05) subst g.53678947G>A - 5.900 - CPT2_000006 rs28936376 - ; clinvar; ensembl; 7711730 - - LOVD
+/+ 1 - 5/5 c.1883A>C p.(Tyr628Ser) probably_damaging(0.987) missense_variant - deleterious(0) subst g.53679173A>C - 5.900 - CPT2_000001 rs28936673 - ; clinvar; ensembl; 8651281;10398215;1999498 - - LOVD
+/+ 1 - 5/5 c.1891C>T p.(Arg631Cys) benign(0.284) missense_variant - deleterious(0.01) subst g.53679181C>T - 5.900 - CPT2_000002 rs74315293 - ; clinvar; ensembl; 1528846;8358442 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium