Full data view for gene OPA3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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     
-/. 1 c.-75G>A r.(?) p.(=) Parent #1 - benign g.46088097C>T g.45584839C>T - - OPA3_000002 - - - rs45598532 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.-75G>A r.(?) p.(=) Unknown - benign g.46088097C>T g.45584839C>T - - OPA3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-38A>G r.(?) p.(=) Unknown - benign g.46088060T>C g.45584802T>C - - OPA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.43G>C r.(?) p.(Gly15Arg) Paternal (confirmed) - likely pathogenic g.46087980C>G g.45584722C>G OPA3 c.43G>C; p.(Gly15Arg) - OPA3_000030 heterozygous PubMed: Atac 2020 - - Germline yes - - - - DNA SEQ-NG-S, SEQ - whole-exome sequencing retinal disease 72005 PubMed: Atac 2020 sibling of 71953 F - - - - - - - 1 LOVD
+?/. - c.43G>C r.(?) p.(Gly15Arg) Paternal (confirmed) - likely pathogenic g.46087980C>G g.45584722C>G OPA3 c.43G>C; p.(Gly15Arg) - OPA3_000030 heterozygous PubMed: Atac 2020 - - Germline yes - - - - DNA SEQ-NG-S, SEQ - whole-exome sequencing retinal disease 71953 PubMed: Atac 2020 sibling of 72005 F - - - - - - - 1 LOVD
+?/. - c.43G>C r.(?) p.(Gly15Arg) Unknown - likely pathogenic g.46087980C>G g.45584722C>G OPA3 c.43G>C; p.(Gly15Arg) - OPA3_000030 heterozygous PubMed: Atac 2020 - - Germline yes - - - - DNA SEQ-NG-S, SEQ - whole-exome sequencing retinal disease 71965 PubMed: Atac 2020 father of 72005 and 71953 M - - - - - - - 1 LOVD
+?/. - c.123C>G r.(?) p.(Ile41Met) Unknown - likely pathogenic g.46087900G>C g.45584642G>C c.123G>C, p.(Ile41Met) - OPA3_000029 different transcript,error in annotation: NM_025136.3(OPA3)c.123G>C instead of C>G, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes OPA1 13119 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+?/. - c.123C>G r.(?) p.(Ile41Met) Maternal (confirmed) - likely pathogenic (dominant) g.46087900G>C g.45584642G>C - - OPA3_000029 - PubMed: Fan 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam8 PubMed: Fan 2020 2-generation family, affected mother/sib - - China - - - - - 2 Johan den Dunnen
+/. - c.123C>G r.(?) p.(Ile41Met) Maternal (confirmed) - pathogenic g.46087900G>C g.45584642G>C - - OPA3_000029 variant in unaffected mother PubMed: Fan 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Pat3 PubMed: Fan 2020 2-generation family, 1 affected - - China - - - - - 1 Johan den Dunnen
+?/. 1 c.123C>G r.(?) p.(Ile41Met) Maternal (confirmed) - likely pathogenic (dominant) g.46087900G>C g.45584642G>C - - OPA3_000029 - PubMed: Liu 2023 rs763083098 rs763083098 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam64Pat175 PubMed: Liu 2023 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
+?/. 1 c.123C>G r.(?) p.(Ile41Met) Unknown - likely pathogenic (dominant) g.46087900G>C g.45584642G>C - - OPA3_000029 - PubMed: Liu 2023 rs763083098 rs763083098 Germline yes - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam64Pat176 PubMed: Liu 2023 mother F - China - - - - - 1 Johan den Dunnen
+?/. 1 c.123C>G r.(?) p.(Ile41Met) Unknown - likely pathogenic (!) g.46087900G>C g.45584642G>C - - OPA3_000029 incomplete penetrance PubMed: Liu 2023 rs763083098 rs763083098 Germline no - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam81Pat222 PubMed: Liu 2023 family M - China - - - - - 2 Johan den Dunnen
+?/. 1 c.123C>G r.(?) p.(Ile41Met) Unknown - likely pathogenic (!) g.46087900G>C g.45584642G>C - - OPA3_000029 incomplete penetrance PubMed: Liu 2023 rs763083098 rs763083098 Germline no - - - - DNA SEQ, SEQ-NG - 792 gene panel Healthy/Control Fam81Pat224 PubMed: Liu 2023 relative F - China - - - - - 1 Johan den Dunnen
?/. - c.135G>A r.(?) p.(Pro45=) Unknown - VUS g.46087888C>T g.45584630C>T - - OPA3_000024 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat9 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
?/. 1i c.142+69G>C r.(?) p.(=) Parent #1 - VUS g.46087812C>G g.45584554C>G - - OPA3_000004 - - - - Germline - - - - - DNA SEQ - - OPA - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.143-24462C>T r.(=) p.(=) Unknown - likely benign g.46057176G>A g.45553918G>A OPA3(NM_025136.3):c.143-7C>T - OPA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.143-24367T>C r.(?) p.(=) Parent #1 - benign g.46057081A>G g.45553823A>G NM_025136.3:c.231T>C (Ala77=) - OPA3_000001 - - - rs3826860 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.143-24367T>C r.(=) p.(=) Unknown - benign g.46057081A>G g.45553823A>G - - OPA3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143-24357G>A r.(=) p.(=) Unknown - VUS g.46057071C>T g.45553813C>T OPA3(NM_025136.3):c.241G>A (p.A81T), OPA3(NM_025136.4):c.241G>A (p.A81T) - OPA3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143-24357G>A r.(=) p.(=) Unknown - VUS g.46057071C>T g.45553813C>T OPA3(NM_025136.3):c.241G>A (p.A81T), OPA3(NM_025136.4):c.241G>A (p.A81T) - OPA3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.143-24349G>C r.(=) p.(=) Unknown - benign g.46057063C>G g.45553805C>G OPA3(NM_025136.4):c.249G>C (p.L83=) - OPA3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143-24343C>T r.(=) p.(=) Unknown - likely benign g.46057057G>A g.45553799G>A OPA3(NM_025136.3):c.255C>T (p.G85=) - OPA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.143-24285C>G r.(=) p.(=) Unknown - pathogenic g.46056999G>C - - - OPA3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.143-24276_143-24259del r.(=) p.(=) Unknown - likely pathogenic g.46056975_46056992del g.45553717_45553734del - - OPA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143-24221T>C r.(=) p.(=) Unknown - VUS g.46056935A>G - OPA3(NM_025136.4):c.377T>C (p.V126A) - OPA3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.143-24186G>A r.(=) p.(=) Unknown - benign g.46056900C>T g.45553642C>T OPA3(NM_025136.4):c.412G>A (p.A138T) - OPA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143-22222C>T r.(=) p.(=) Parent #1 - likely benign g.46054936G>A g.45551678G>A - - OPA3_000018 42 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74717111 Germline - 42/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 42 Mohammed Faruq
-?/. - c.143-20336G>A r.(=) p.(=) Parent #1 - likely benign g.46053050C>T g.45549792C>T - - OPA3_000017 185 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73568973 Germline - 185/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 185 Mohammed Faruq
-?/. - c.143-20336G>A r.(=) p.(=) Both (homozygous) - likely benign g.46053050C>T g.45549792C>T - - OPA3_000017 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73568973 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.184G>A r.(?) p.(Gly62Ser) Unknown - likely benign g.46032673C>T g.45529415C>T OPA3(NM_001017989.2):c.184G>A (p.G62S), OPA3(NM_001017989.3):c.184G>A (p.G62S) - OPA3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.184G>A r.(?) p.(Gly62Ser) Unknown - likely benign g.46032673C>T - OPA3(NM_001017989.2):c.184G>A (p.G62S), OPA3(NM_001017989.3):c.184G>A (p.G62S) - OPA3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293T>C r.(?) p.(Met98Thr) Unknown - VUS g.46032564A>G - OPA3(NM_001017989.3):c.293T>C (p.M98T) - OPA3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.308G>A r.(?) p.(Arg103His) Parent #1 - likely pathogenic (dominant) g.46032549C>T g.45529291C>T 308G>C (R103H) - OPA3_000025 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease ZD68 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
-?/. 2 c.343C>T r.(?) p.(Arg115*) Unknown - likely benign g.46032514G>A g.45529256G>A - - OPA3_000003 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I - - SCAR - ATX515 - F - France - - - - - 1 Claire Guissart
?/. - c.385T>G r.(?) p.(Leu129Val) Unknown - VUS g.46032472A>C g.45529214A>C - - OPA3_000027 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP322 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.414G>A r.(?) p.(Ala138=) Unknown - likely benign g.46032443C>T - OPA3(NM_001017989.2):c.414G>A (p.A138=) - OPA3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445del r.(?) p.(Leu149TrpfsTer67) Unknown - VUS g.46032414del g.45529156del OPA3(NM_001017989.2):c.445delC (p.L149Wfs*67), OPA3(NM_001017989.3):c.445delC (p.L149Wfs*67) - OPA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.445del r.(?) p.(Leu149TrpfsTer67) Unknown - pathogenic g.46032414del - OPA3(NM_001017989.2):c.445delC (p.L149Wfs*67), OPA3(NM_001017989.3):c.445delC (p.L149Wfs*67) - OPA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.445del r.(?) p.(Leu149TrpfsTer67) Unknown - pathogenic g.46032414del - OPA3(NM_001017989.2):c.445delC (p.L149Wfs*67), OPA3(NM_001017989.3):c.445delC (p.L149Wfs*67) - OPA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458G>A r.(?) p.(Arg153His) Unknown - VUS g.46032399C>T - OPA3(NM_001017989.3):c.458G>A (p.R153H) - OPA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.509C>T r.(?) p.(Pro170Leu) Parent #1 - likely pathogenic g.46032348G>A g.45529090G>A - - OPA3_000026 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM327 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
-/. - c.519A>T r.(?) p.(Pro173=) Unknown - benign g.46032338T>A g.45529080T>A OPA3(NM_001017989.3):c.519A>T (p.P173=) - OPA3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4439G>A r.(=) p.(=) Unknown - likely benign g.46027875C>T - VASP(NM_003370.3):c.1004C>T (p.(Thr335Met)) - OPA3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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