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.

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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     
+?/. - c.1775G>A r.(?) p.(Cys592Tyr) ACMG likely pathogenic g.41922279G>A g.41526275G>A ACO2, gene that can display both dominant and recessive patterns of inheritance, c.1775G>A, p.Cys592Tyr, compound heterozygous - ACO2_000139 - PubMed: Perea-Romero 2021 - - Germline yes - - 0 - LOVD
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