View all transcript variants in 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     

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.-845G>T p.(=) - - - - 2 Unknown - g.211089981C>A - - - ACADL_000016 MSCV_0019485 - - ; clinvar; - - - -
./. - - c.23A>G p.(His8Arg) - - - - 2 Unknown - g.211085518T>C - - - ACADL_000015 MSCV_0019484 - - ; clinvar; - - - -
./. - - c.31G>A p.(Gly11Arg) - - - - 2 Unknown - g.211085510C>T - - - ACADL_000014 MSCV_0019483 - - ; clinvar; - - - -
./. - - c.50C>T p.(Thr17Ile) - - - - 2 Unknown - g.211085491G>A - - - ACADL_000013 MSCV_0019482 - - ; clinvar; - - - -
./. - - c.170+13T>C p.(=) - - - - 2 Unknown - g.211085358A>G - - - ACADL_000012 MSCV_0019481 - - ; clinvar; - - - -
./. - - c.190G>A p.(Val64Ile) - - - - 2 Unknown - g.211082807C>T - - - ACADL_000011 MSCV_0019480 - - ; clinvar; - - - -
./. - - c.311C>T p.(Ala104Val) - - - - 2 Unknown - g.211081233G>A - - - ACADL_000010 MSCV_0019479 - - ; clinvar; - - - -
./. - - c.540+11A>G p.(=) - - - - 2 Unknown - g.211074909T>C - - - ACADL_000009 MSCV_0019478 - - ; clinvar; - - - -
./. - - c.558G>T p.(=) - - - - 2 Unknown - g.211070503C>A - - - ACADL_000008 MSCV_0019477 - - ; clinvar; - - - -
./. - - c.566G>A p.(Ser189Asn) - - - - 2 Unknown - g.211070495C>T - - - ACADL_000007 MSCV_0019476 - - ; clinvar; - - - -
./. - - c.588G>A p.(=) - - - - 2 Unknown - g.211070473C>T - - - ACADL_000006 MSCV_0019475 - - ; clinvar; - - - -
./. - - c.591C>T p.(=) - - - - 2 Unknown - g.211070470G>A - - - ACADL_000005 MSCV_0019474 - - ; clinvar; - - - -
./. - - c.876T>C p.(=) - - - - 2 Unknown - g.211068100A>G - - - ACADL_000004 MSCV_0019473 - - ; clinvar; - - - -
./. - - c.929A>G p.(Gln310Arg) - - - - 2 Unknown - g.211060055T>C - - - ACADL_000003 MSCV_0019472 - - ; clinvar; - - - -
./. - - c.934A>C p.(Lys312Gln) - - - - 2 Unknown - g.211060050T>G - - - ACADL_000001 MSCV_0002845 - - ; clinvar; - - - -
?/? - 9/11 c.934A>C p.(Lys312Gln) - missense_variant - - 2 Unknown subst g.211060050T>G - 5.770 - ACADL_000001 MSCV_0002845 rs2286963 - ; Ensembl; 24591516 - - -
./. - - c.1081G>A p.(Asp361Asn) - - - - 2 Unknown - g.211057583C>T - - - ACADL_000021 MSCV_0019470 - - ; clinvar; - - - -
./. - - c.*530T>C p.(=) - - - - 2 Unknown - g.211053155A>G - - - ACADL_000020 MSCV_0019469 - - ; clinvar; - - - -
./. - - c.*621G>A p.(=) - - - - 2 Unknown - g.211053064C>T - - - ACADL_000019 MSCV_0019468 - - ; clinvar; - - - -
./. - - c.*711G>A p.(=) - - - - 2 Unknown - g.211052974C>T - - - ACADL_000018 MSCV_0019467 - - ; clinvar; - - - -
./. - - c.*724T>C p.(=) - - - - 2 Unknown - g.211052961A>G - - - ACADL_000017 MSCV_0019466 - - ; clinvar; - - - -
./. - - c.*928A>G p.(=) - - - - 2 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