All variants in the ACO2 gene

Mitodyn.org logo
A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
 
Information The variants shown are described using the NM_001098.2 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
Legend   How to query  

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.220C>G r.(?) p.(Leu74Val) - benign g.41903841C>G g.41507837C>G ACO2(NM_001098.2):c.220C>G (p.L74V), ACO2(NM_001098.3):c.220C>G (p.L74V) - ACO2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Metodiev 2014 - - Germline yes - - 0 - Thomas Foulonneau
+/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Kelman 2018 - - Germline yes - - 0 - Thomas Foulonneau
+/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Kelman 2018 - - Germline yes - - 0 - Thomas Foulonneau
?/. 3 c.220C>G r.(?) p.(Leu74Val) - VUS g.41903841C>G g.41507837C>G ACO2(NM_001098.2):c.220C>G (p.L74V), ACO2(NM_001098.3):c.220C>G (p.L74V) - ACO2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - De novo yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
-/+? 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - Khadidja Guehlouz
-/+? 3 c.220C>G r.(?) p.(Leu74Val) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - Khadidja Guehlouz
?/. 3 c.220C>G r.(?) p.(Leu74Val) - VUS g.41903841C>G g.41507837C>G - - ACO2_000005 Conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141772938 Germline - 6/2793 individuals - 0 - Mohammed Faruq
-/? 3 c.220C>G r.(?) p.(Leu74Val) - likely benign g.41903841C>G g.41507837C>G - - ACO2_000005 - - - - SUMMARY record - - - 0 - Marc Ferre
?/? 3 c.220C>G r.(?) p.(Leu74Val) - VUS g.41903841C>G - - - ACO2_000005 - - - - Germline/De novo (untested) - - - 0 - Marc Ferre
?/. - c.220C>G r.(?) p.(Leu74Val) - VUS g.41903841C>G - ACO2(NM_001098.2):c.220C>G (p.L74V), ACO2(NM_001098.3):c.220C>G (p.L74V) - ACO2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend   How to query