All variants in the ACO2 gene

Mitodyn.org logo
A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
 
Information The variants shown are described using the NM_001098.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.245T>C r.(?) p.(Ile82Thr) - likely pathogenic g.41903866T>C g.41507862T>C - - ACO2_000130 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
Legend   How to query