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.

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

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium