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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 4 c.441C>G r.(?) p.(Asn147Lys) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - Journal: Charif 2021 - - Germline - - - 0 - Khadidja Guehlouz
+/. 4 c.441C>G r.(?) p.(Asn147Lys) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
-/+? 4 c.441C>G r.(?) p.(Asn147Lys) - likely pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 Non affected Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - Khadidja Guehlouz
+/. 4 c.441C>G r.(?) p.(Asn147Lys) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - - - - SUMMARY record - - - 0 - Marc Ferre
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