Full data view for gene ACO2

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.

333 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

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     
?/. _1 c.-504T>C r.(?) p.(=) Unknown - VUS g.41864647T>C g.41468643T>C PHF5A(NM_032758.4):c.11A>G (p.H4R) - PHF5A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-494T>A r.(?) p.(=) Unknown - VUS g.41864657T>A g.41468653T>A - - ACO2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-494T>A r.(?) p.(=) Unknown - VUS g.41864657T>A g.41468653T>A - - ACO2_000032 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.36+5del r.spl? p.? Parent #1 - pathogenic (recessive) g.41865191del g.41469187del - - ACO2_000084 - 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 M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 1i c.36+5del r.spl? p.? Unknown - pathogenic (recessive) g.41865191del g.41469187del - - ACO2_000084 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.72A>G r.(?) p.(Ser24=) Unknown - benign g.41895765A>G g.41499761A>G ACO2(NM_001098.2):c.72A>G (p.S24=) - ACO2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.72A>G r.(?) p.(=) Unknown - benign g.41895765A>G g.41499761A>G - - ACO2_000003 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.84A>G r.(?) p.(Gln28=) Unknown - benign g.41895777A>G g.41499773A>G ACO2(NM_001098.2):c.84A>G (p.Q28=) - ACO2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.84A>G r.(?) p.(=) Unknown - benign g.41895777A>G g.41499773A>G - - ACO2_000033 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.166C>T r.(?) p.(Arg56Cys) Both (homozygous) - pathogenic (dominant) g.41895859C>T g.41499855C>T - - ACO2_000085 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 1 generation, 3 carriers, 1 affected M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 2 c.166C>T r.(?) p.(Arg56Cys) Unknown - pathogenic (dominant) g.41895859C>T g.41499855C>T - - ACO2_000085 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.172C>T r.(?) p.(Arg58*) Unknown - pathogenic (dominant) g.41895865C>T g.41499861C>T - - ACO2_000050 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 - F - France - - 0 - - 1 Khadidja Guehlouz
+/. 2 c.172C>T r.(?) p.(Arg58*) Unknown - pathogenic (dominant) g.41895865C>T g.41499861C>T - - ACO2_000050 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.180C>G r.(?) p.(Asn60Lys) Unknown - likely benign g.41903801C>G g.41507797C>G ACO2(NM_001098.2):c.180C>G (p.N60K) - ACO2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.180C>G r.(?) p.(Asn60Lys) Unknown - likely benign g.41903801C>G g.41507797C>G - - ACO2_000034 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.192A>C r.(?) p.(Thr64=) Unknown - benign g.41903813A>C g.41507809A>C ACO2(NM_001098.2):c.192A>C (p.T64=) - ACO2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.192A>C r.(?) p.(Thr64=) Unknown - benign g.41903813A>C g.41507809A>C ACO2(NM_001098.2):c.192A>C (p.T64=) - ACO2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.192A>C r.(?) p.(=) Unknown - benign g.41903813A>C g.41507809A>C - - ACO2_000004 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) Paternal (confirmed) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 3 generation, 3 carriers, 2 affected M ? France - - 0 - - 3 Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) Paternal (confirmed) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG - - neuropathy, optic - Journal: Charif 2021 2 generations, 3 carriers, 2 affected (paternal) M ? France - - 0 - - 3 Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) Unknown - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 3 carriers, 2 affected M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) Paternal (confirmed) - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - Journal: Charif 2021 - - Germline no - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 3 carriers, 2 affected M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10) Unknown - pathogenic (dominant) g.41903817_41903818del g.41507813_41507814del - - ACO2_000057 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/? 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_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_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
-/. 3 c.231C>T r.(?) p.(Pro77=) Unknown - benign g.41903852C>T g.41507848C>T ACO2(NM_001098.2):c.231C>T (p.P77=) - ACO2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.231C>T r.(?) p.(=) Unknown - benign g.41903852C>T g.41507848C>T - - ACO2_000006 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.245T>C r.(?) p.(Ile82Thr) Parent #2 - likely pathogenic g.41903866T>C g.41507862T>C - - ACO2_000130 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 981 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - 1 -
+/. 3 c.275G>A r.(?) p.(Arg92Gln) Parent #1 - pathogenic (dominant) g.41903896G>A g.41507892G>A - - ACO2_000103 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 - M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 3 c.275G>A r.(?) p.(Arg92Gln) Unknown - pathogenic (dominant) g.41903896G>A g.41507892G>A - - ACO2_000103 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.282C>T r.(?) p.(Asp94=) Unknown - benign g.41903903C>T g.41507899C>T ACO2(NM_001098.2):c.282C>T (p.D94=) - ACO2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.282C>T r.(?) p.(Asp94=) Unknown - likely benign g.41903903C>T g.41507899C>T ACO2(NM_001098.2):c.282C>T (p.D94=) - ACO2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.282C>T r.(?) p.(=) Unknown - benign g.41903903C>T g.41507899C>T - - ACO2_000007 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.316G>A r.(?) p.(Ala106Thr) Unknown - VUS g.41903937G>A g.41507933G>A ACO2(NM_001098.2):c.316G>A (p.A106T) - ACO2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.316G>A r.(?) p.(Ala106Thr) Unknown - VUS g.41903937G>A g.41507933G>A - - ACO2_000035 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.323T>C r.(?) p.(Leu108Pro) Unknown - pathogenic (dominant) g.41903944T>C g.41507940T>C - - ACO2_000051 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 - M - France - - 0 - - 1 Khadidja Guehlouz
+/. 3 c.323T>C r.(?) p.(Leu108Pro) Unknown - pathogenic (dominant) g.41903944T>C g.41507940T>C - - ACO2_000051 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family B III-3 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family B III-2 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family B III-1 PubMed: Spiegel 2012 3-generation family, 3 affected F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A V-7 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death M yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A V-5 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A V-2 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A IV-5 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death F yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Spiegel 2012 - - Germline yes - - 0 - DNA SEQ-NG-S - - ICRD Family A IV-3 PubMed: Spiegel 2012 5-generation family, 8 affected, 3 death M yes Israel Arab muslim origin - 0 - - 1 Thomas Foulonneau
+/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Abela 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood - EE F3-P1 PubMed: Abela 2017 2 affected F ? Israel Arab - 0 - - 1 Thomas Foulonneau
+/. 3 c.336C>G r.(?) p.(Ser112Arg) Both (homozygous) - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 Not in 256 control chromosomes PubMed: Sadat 2016 - - Germline yes - - 0 - DNA SEQ - - EE F3-P2 PubMed: Abela2017 2 affected F ? Israel Arab - 0 - - 1 Thomas Foulonneau
+?/. 3 c.336C>G r.(?) p.(Ser112Arg) Unknown - pathogenic (recessive) g.41903957C>G g.41507953C>G - - ACO2_000001 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.365C>T r.(?) p.(Ser122Phe) Unknown - VUS g.41903986C>T - ACO2(NM_001098.2):c.365C>T (p.S122F) - ACO2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.432+19T>C r.(=) p.(=) Unknown - benign g.41904072T>C g.41508068T>C ACO2(NM_001098.2):c.432+19T>C - ACO2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3i c.432+19T>C r.(=) p.(=) Unknown - benign g.41904072T>C g.41508068T>C - - ACO2_000008 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.441C>G r.(?) p.(Asn147Lys) Paternal (confirmed) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - Journal: Charif 2021 - - Germline - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 3 generation, 3 carriers, 2 affected M ? France - - 0 - - 3 Khadidja Guehlouz
+/. 4 c.441C>G r.(?) p.(Asn147Lys) Maternal (confirmed) - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 3 generations, 3 carriers, 2 affected M ? France - - 0 - - 1 Khadidja Guehlouz
-/+? 4 c.441C>G r.(?) p.(Asn147Lys) Parent #1 - likely pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 Non affected Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 3 generations, 3 carriers, 2 affected ( son and grandson) F ? France - - 0 - - 1 Khadidja Guehlouz
+/. 4 c.441C>G r.(?) p.(Asn147Lys) Unknown - pathogenic (dominant) g.41907888C>G g.41511884C>G - - ACO2_000052 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.487G>A r.(?) p.(Val163Met) Parent #2 - likely pathogenic (recessive) g.41907934G>A g.41511930G>A - - ACO2_000104 - Journal: Charif 2021 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 Both non affected parents are HTZ for each variant F ? France - 00y-02y 0 - - 1 Khadidja Guehlouz
+/. 4 c.487G>A r.(?) p.(Val163Met) Unknown - likely pathogenic (recessive) g.41907934G>A g.41511930G>A - - ACO2_000104 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.487G>T r.(?) p.(Val163Leu) Paternal (inferred) - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - PubMed: 32449285 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic, OPA-9 Subject 1 PubMed: Gibson 2020 2-generation family, 3 carriers, 2 affected M no United States Hispanic ancestry - 0 - - 2 Khadidja Guehlouz
+/. 4 c.487G>T r.(?) p.(Val163Leu) Paternal (inferred) - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - PubMed: 32449285 - - Germline yes - - 0 - DNA SEQ-NG blood - neuropathy, optic, OPA-9 Subject 2 PubMed: Gibson 2020 2-generation family, 3 carriers, 2 affected F no United States Hispanic ancestry - 0 - - 1 Khadidja Guehlouz
+/. 4 c.487G>T r.(?) p.(Val163Leu) Unknown - likely pathogenic (recessive) g.41907934G>T g.41511930G>T - - ACO2_000121 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.514A>C r.(?) p.(Ile172Leu) Parent #1 - pathogenic (dominant) g.41907961A>C g.41511957A>C - - ACO2_000053 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 - F ? France - - 0 - - 1 Khadidja Guehlouz
+/. 4 c.514A>C r.(?) p.(Ile172Leu) Unknown - pathogenic (dominant) g.41907961A>C g.41511957A>C - - ACO2_000053 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i c.525+1G>A r.spl? p.? Unknown - likely pathogenic (recessive) g.41907973G>A g.41511969G>A - - ACO2_000105 - Journal: Charif 2021 - - De novo yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 2 generations, 2 carriers, 1 affected M ? France - - 0 - - 2 Khadidja Guehlouz
+/. 4i c.525+1G>A r.spl? p.? Unknown - likely pathogenic (recessive) g.41907973G>A g.41511969G>A - - ACO2_000105 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 4i c.525+6G>A r.(=) p.(=) Unknown - likely benign g.41907978G>A g.41511974G>A ACO2(NM_001098.2):c.525+6G>A - ACO2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 4i c.525+6G>A r.(=) p.(=) Unknown - likely benign g.41907978G>A g.41511974G>A - - ACO2_000036 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i c.526-2A>G r.spl? p.? Paternal (confirmed) - pathogenic (dominant) g.41911379A>G g.41515375A>G - - ACO2_000054 - Journal: Charif 2021 - - Germline no - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 - F ? France - - 0 - - 1 Khadidja Guehlouz
+/. 4i c.526-2A>G r.spl? p.? Unknown - pathogenic (dominant) g.41911379A>G g.41515375A>G - - ACO2_000054 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 5 c.573T>C r.(?) p.(Thr191=) Unknown - benign g.41911428T>C g.41515424T>C ACO2(NM_001098.2):c.573T>C (p.T191=) - ACO2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 5 c.573T>C r.(?) p.(=) Unknown - benign g.41911428T>C g.41515424T>C - - ACO2_000037 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.575A>G r.(?) p.(Asp192Gly) Parent #1 - pathogenic (dominant) g.41911430A>G g.41515426A>G - - ACO2_000055 - Journal: Charif 2021 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 - M - France - - 0 - - 1 Khadidja Guehlouz
+?/. 4 c.575A>G r.(?) p.(Asp192Gly) Unknown - pathogenic (dominant) g.41911430A>G g.41515426A>G - - ACO2_000055 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.610A>C r.(?) p.(Ile204Leu) Maternal (inferred) - likely pathogenic (recessive) g.41911465A>C g.41515461A>C - - ACO2_000106 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 mother and daughter affected but no DNA M ? France - - 0 - - 1 Khadidja Guehlouz
+/. 4 c.610A>C r.(?) p.(Ile204Leu) Unknown - likely pathogenic (recessive) g.41911465A>C g.41515461A>C - - ACO2_000106 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.670C>T r.(?) p.(Leu224=) Unknown - benign g.41911525C>T g.41515521C>T - - ACO2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.670C>T r.(?) p.(=) Unknown - benign g.41911525C>T g.41515521C>T - - ACO2_000038 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.680C>A r.(?) p.(Pro227His) Both (homozygous) - pathogenic (dominant) g.41911535C>A g.41515531C>A - - ACO2_000107 - Journal: Charif 2021 - - Germline/De novo (untested) yes - - 0 - DNA SEQ-NG blood - neuropathy, optic - Journal: Charif 2021 - F ? France - - 0 - - 1 Khadidja Guehlouz
+/. 4 c.680C>A r.(?) p.(Pro227His) Unknown - pathogenic (dominant) g.41911535C>A g.41515531C>A - - ACO2_000107 - - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5i c.684+1G>T r.spl? p.? Parent #1 - likely pathogenic (dominant) g.41911540G>T g.41515536G>T - - ACO2_000120 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs747330606 Germline - 18/2645 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 18 Mohammed Faruq
+/. 5i c.684+1G>T r.spl? p.? Unknown - likely pathogenic (dominant) g.41911540G>T g.41515536G>T - - ACO2_000120 - - - rs747330606 SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.705G>A r.(?) p.(Thr235=) Unknown - likely benign g.41911791G>A - ACO2(NM_001098.2):c.705G>A (p.T235=) - ACO2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »