Unique variants in gene ACADL

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

3 entries on 1 page. Showing entries 1 - 3.
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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 - - c.929A>G - - - - - - g.211060055T>C - - - ACADL_000003 - - ; clinvar; - - - LOVD
?/? 1 - 9/11 c.934A>C p.(Lys312Gln) - missense_variant - - subst g.211060050T>G - 5.770 - ACADL_000001 rs2286963 - ; Ensembl; 24591516 - - LOVD
./. 1 - - c.*928A>G - - - - - - g.211052757T>C - - - ACADL_000002 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium