Full data view for gene ACADL

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

22 entries on 1 page. Showing entries 1 - 22.
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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     

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.-845G>T p.(=) - - - - Unknown - g.211089981C>A - - - ACADL_000016 MSCV_0019485 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.23A>G p.(His8Arg) - - - - Unknown - g.211085518T>C - - - ACADL_000015 MSCV_0019484 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.31G>A p.(Gly11Arg) - - - - Unknown - g.211085510C>T - - - ACADL_000014 MSCV_0019483 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.50C>T p.(Thr17Ile) - - - - Unknown - g.211085491G>A - - - ACADL_000013 MSCV_0019482 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.170+13T>C p.(=) - - - - Unknown - g.211085358A>G - - - ACADL_000012 MSCV_0019481 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.190G>A p.(Val64Ile) - - - - Unknown - g.211082807C>T - - - ACADL_000011 MSCV_0019480 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.311C>T p.(Ala104Val) - - - - Unknown - g.211081233G>A - - - ACADL_000010 MSCV_0019479 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.540+11A>G p.(=) - - - - Unknown - g.211074909T>C - - - ACADL_000009 MSCV_0019478 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.558G>T p.(=) - - - - Unknown - g.211070503C>A - - - ACADL_000008 MSCV_0019477 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.566G>A p.(Ser189Asn) - - - - Unknown - g.211070495C>T - - - ACADL_000007 MSCV_0019476 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.588G>A p.(=) - - - - Unknown - g.211070473C>T - - - ACADL_000006 MSCV_0019475 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.591C>T p.(=) - - - - Unknown - g.211070470G>A - - - ACADL_000005 MSCV_0019474 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.876T>C p.(=) - - - - Unknown - g.211068100A>G - - - ACADL_000004 MSCV_0019473 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.929A>G p.(Gln310Arg) - - - - Unknown - g.211060055T>C - - - ACADL_000003 MSCV_0019472 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
?/? - 9/11 c.934A>C p.(Lys312Gln) - missense_variant - - Unknown subst g.211060050T>G - 5.770 - ACADL_000001 MSCV_0002845 rs2286963 - ; Ensembl; 24591516 - - - - - - - - - - - - - - - - - - -
./. - - c.934A>C p.(Lys312Gln) - - - - Unknown - g.211060050T>G - - - ACADL_000001 MSCV_0002845 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1081G>A p.(Asp361Asn) - - - - Unknown - g.211057583C>T - - - ACADL_000021 MSCV_0019470 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*530T>C p.(=) - - - - Unknown - g.211053155A>G - - - ACADL_000020 MSCV_0019469 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*621G>A p.(=) - - - - Unknown - g.211053064C>T - - - ACADL_000019 MSCV_0019468 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*711G>A p.(=) - - - - Unknown - g.211052974C>T - - - ACADL_000018 MSCV_0019467 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*724T>C p.(=) - - - - Unknown - g.211052961A>G - - - ACADL_000017 MSCV_0019466 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*928A>G p.(=) - - - - Unknown - g.211052757T>C - - - ACADL_000002 MSCV_0019465 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium