View all transcript variants in gene ACADVL

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

1 entry on 1 page. Showing entry 1.
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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     

Variant_disease     

Owner     
./. - - c.488_527del p.(Gly166Alafs*61) - - - - 17 Unknown - g.7124319_7124358del - - - ACADVL_000280 - - - ; clinvar; - - - - Lishuang Shen
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium