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.

11 entries on 1 page. Showing entries 1 - 11.
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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     
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - Thomas Foulonneau
+/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Abela 2017 - - Germline yes - - 0 - Thomas Foulonneau
+/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Sadat 2016 - - Germline yes - - 0 - Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 - - - - SUMMARY record - - - 0 - Marc Ferre
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