Full data view for gene ACO2

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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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family B III-3 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family B III-2 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family B III-1 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A V-7 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death M yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A V-5 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A V-2 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A IV-5 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A IV-3 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death M yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Abela 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood - EE F3-P1 PubMed: Abela 2017 2 affected F ? Israel Arab - 0 - - 1 Thomas Foulonneau
+/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Sadat 2016 - - Germline yes - - 0 - DNA SEQ - - EE F3-P2 PubMed: Abela2017 2 affected F ? Israel Arab - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Unknown - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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