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.

22 entries on 1 page. Showing entries 1 - 22.
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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.220C>G r.(?) p.(Leu74Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Metodiev 2014 - - Germline yes - - 0 - DNA SEQ - - neuropathy, optic, blindness Patients 1 and 2 PubMed: Metodiev 2014 2 affected M ? France - - 0 - - 2 Thomas Foulonneau
+/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Kelman 2018 - - Germline yes - - 0 - DNA SEQ-NG-I - - neuropathy, optic, OPA, blindness Sibling 2 PubMed: Kelman 2018 3-generation family, 1 carrier, 2 affected M no - - - 0 - - 1 Thomas Foulonneau
+/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - PubMed: Kelman 2018 - - Germline yes - - 0 - DNA SEQ-NG-I - - neuropathy, optic, OPA, blindness Sibling 1 PubMed: Kelman 2018 3-generation family, 1 carrier, 2 affected M no - - - 0 - - 1 Thomas Foulonneau
?/. 3 c.220C>G r.(?) p.(Leu74Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 - M ? England - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 3 carriers (both non affected parents are heterozygous for each variant), 1 affected F ? France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - De novo yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 4 generations,1 carrier, 1 affected M no France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 5 carriers, 4 affected M ? France - - 0 - - 5 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 2 carriers, 1 affected M ? France - - 0 - - 2 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 Non affected mother are heterozygous for one variant F ? Italy - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 - F ? France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 5 carriers, 4 affected M ? France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Maternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 5 carriers, 4 affected M ? France - - 0 - - 1 Khadidja Guehlouz
-/+? 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 5 carriers, 4 affected F ? France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 2 carriers, 1 affected (son) F - France - - 0 - - 1 Khadidja Guehlouz
+?/. 3 c.220C>G r.(?) p.(Leu74Val) Paternal (confirmed) - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 2 carriers, 1 affected M - France - - 0 - - 2 Khadidja Guehlouz
-/+? 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - likely pathogenic (recessive) g.41903841C>G g.41507837C>G - - ACO2_000005 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 2 carriers, 1affected (son) M ? France - - 0 - - 1 Khadidja Guehlouz
?/. 3 c.220C>G r.(?) p.(Leu74Val) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
-/? 3 c.220C>G r.(?) p.(Leu74Val) Unknown - likely benign g.41903841C>G g.41507837C>G - - ACO2_000005 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.220C>G r.(?) p.(Leu74Val) Unknown - VUS g.41903841C>G - - - ACO2_000005 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG Blood - neuropathy, optic - - - F - (France) - - 0 - - 1 Marc Ferre
?/. - c.220C>G r.(?) p.(Leu74Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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