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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 16 c.2006C>T r.(?) p.(Ser669Leu) Parent #1 - pathogenic (dominant) g.41923344C>T g.41527340C>T - - ACO2_000083 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 - F ? Germany - - 0 - - 1 Khadidja Guehlouz
+/. 16 c.2006C>T r.(?) p.(Ser669Leu) Maternal (confirmed) - pathogenic (dominant) g.41923344C>T g.41527340C>T - - ACO2_000083 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 3 generations, 4 carriers, 2 affected M no France - - 0 - - 4 Khadidja Guehlouz
+/. 16 c.2006C>T r.(?) p.(Ser669Leu) Maternal (confirmed) - pathogenic (dominant) g.41923344C>T g.41527340C>T - - ACO2_000083 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 3 generations, 4 carriers, 2 affected F ? France - - 0 - - 1 Khadidja Guehlouz
+?/. 16 c.2006C>T r.(?) p.(Ser669Leu) Parent #1 - pathogenic (dominant) g.41923344C>T g.41527340C>T - - ACO2_000083 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 3 generations, 4 carriers, 2 affected F ? France - - 0 - - 1 Khadidja Guehlouz
+/. 16 c.2006C>T r.(?) p.(Ser669Leu) Maternal (confirmed) - pathogenic (dominant) g.41923344C>T g.41527340C>T - - ACO2_000083 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 3 generations, 4 carriers, 2 affected M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 16 c.2006C>T r.(?) p.(Ser669Leu) Unknown - pathogenic (dominant) g.41923344C>T g.41527340C>T - - ACO2_000083 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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