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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
-/. 9 c.1113A>G r.(?) p.(Glu371=) - benign g.41916255A>G g.41520251A>G ACO2(NM_001098.2):c.1113A>G (p.E371=) - ACO2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. 9 c.1113A>G r.(?) p.(Glu371=) - likely benign g.41916255A>G g.41520251A>G ACO2(NM_001098.2):c.1113A>G (p.E371=) - ACO2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. 9 c.1113A>G r.(?) p.(=) - benign g.41916255A>G g.41520251A>G - - ACO2_000039 - - - - SUMMARY record - - - 0 - Marc Ferre
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