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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/. 15 c.1859G>A r.(?) p.(Gly620Asp) Paternal (confirmed) - likely pathogenic (recessive) g.41922363G>A g.41526359G>A - - ACO2_000021 - PubMed: Papuc 2019 - - Germline - - - 0 - DNA SEQ-NG-I blood WES EE 69986 - - F no Switzerland - - 0 - - 1 Anaïs Begemann
+/. 15 c.1859G>A r.(?) p.(Gly620Asp) Both (homozygous) - likely pathogenic (recessive) g.41922363G>A g.41526359G>A - - ACO2_000021 - PubMed: Abela 2017 - - Germline yes - - 0 - DNA SEQ-NG-I peripheral blood - EE F4-P1 PubMed: Abela 2017 1 affected F ? - white - 0 - - 1 Thomas Foulonneau
+?/. 15 c.1859G>A r.(?) p.(Gly620Asp) Unknown - likely pathogenic (recessive) g.41922363G>A g.41526359G>A - - ACO2_000021 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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