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.

8 entries on 1 page. Showing entries 1 - 8.
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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     
?/. 6 c.719G>C r.(?) p.(Gly240Ala) - VUS g.41911805G>C g.41515801G>C - - ACO2_000002 - - - - Germline - - - 0 - Claire Guissart
?/. 6 c.719G>C r.(?) p.(Gly240Ala) - VUS g.41911805G>C g.41515801G>C ACO2(NM_001098.2):c.719G>C (p.G240A), ACO2(NM_001098.3):c.719G>C (p.G240A) - ACO2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. 6 c.719G>C r.(?) p.(Gly240Ala) - VUS g.41911805G>C g.41515801G>C ACO2(NM_001098.2):c.719G>C (p.G240A), ACO2(NM_001098.3):c.719G>C (p.G240A) - ACO2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 6 c.719G>C r.(?) p.(Gly240Ala) - likely pathogenic (recessive) g.41911805G>C g.41515801G>C - - ACO2_000002 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
?/. 6 c.719G>C r.(?) p.(Gly240Ala) - VUS g.41911805G>C g.41515801G>C ACO2(NM_001098.2):c.719G>C (p.G240A), ACO2(NM_001098.3):c.719G>C (p.G240A) - ACO2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 6 c.719G>C r.(?) p.(Gly240Ala) - VUS g.41911805G>C g.41515801G>C - - ACO2_000002 - - - - SUMMARY record - - - 0 - Marc Ferre
+/+ 6 c.719G>C r.(?) p.(Gly240Ala) - pathogenic (recessive) g.41911805G>C - - - ACO2_000002 - - - - Germline/De novo (untested) - - - 0 - Marc Ferre
?/? - c.719G>C r.(?) p.(Gly240Ala) - VUS g.41911805G>C - - - ACO2_000002 - - - - Germline/De novo (untested) ? - - 0 - Marc Ferre
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