All variants in the ACO2 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 10 c.1254dup r.(?) p.(Gly419Argfs*10) - pathogenic (dominant) g.41918949dup g.41522945dup - - ACO2_000066 Both non affected parents don't carry the variant Journal: Charif 2021 - - De novo yes - - 0 - Khadidja Guehlouz
+/. 10 c.1254dup r.(?) p.(Gly419Argfs*10) - pathogenic (dominant) g.41918949dup g.41522945dup - - ACO2_000066 - - - - SUMMARY record - - - 0 - Marc Ferre
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