Full data view for gene OPA1

Mitodyn.org logo
A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
This database is also one of the "Eye disease" gene variant databases.
 
Information The variants shown are described using the transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
./. - c.112C>T r.(?) p.(Arg38*) - Unknown - pathogenic g.193332591C>T g.193614802C>T - - OPA1_000236 eOPA1 identifier (obsolete):OA_00245; Nucleotide change: C to T at 112 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Nakamura 2006 - - Germline yes - - - - DNA SEQ Blood - OPA - PubMed: Nakamura 2006 - - - Japan - - - - - 1 Marc Ferre
+?/. 2 c.112C>T r.? p.(Arg38*) Basic Unknown ACMG pathogenic (dominant) g.193332591C>T - - - OPA1_000236 - - - - Germline - - - - - DNA SEQ Blood - OPA1 - - - M - China Asian - - - - 1 Xingyu Xu
+/. - c.112C>T r.(?) p.(Arg38*) - Parent #1 - pathogenic (dominant) g.193332591C>T - - - OPA1_000236 - - - - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - neuropathy, optic - Patrizia AMATI-BONNEAU and Pascal REYNIER, Angers (France), 2022-08-30 - M - (France) - - - - - 1 Marc Ferre
+/. 2 c.112C>T r.(?) p.(Arg38Ter) - Unknown - pathogenic (dominant) g.193332591C>T g.193614802C>T - - OPA1_000236 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - - - - - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - - - - 1 Johan den Dunnen
+/. - c.112C>T r.(?) p.(Arg38Ter) - Unknown ACMG pathogenic g.193332591C>T g.193614802C>T - - OPA1_000236 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 805095 - Germline - - - - - DNA SEQ-NG - WGS ? OAK-798 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+/. - c.112C>T r.(?) p.(Arg38Ter) - Parent #1 - pathogenic g.193332591C>T g.193614802C>T - - OPA1_000236 ACMG PVS1, PS1, PS4, PM2, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F048P051II-1 PubMed: Zheng 2024 - F - China - - - - - 1 Johan den Dunnen
+/. - c.112C>T r.(?) p.(Arg38Ter) - Parent #1 - pathogenic g.193332591C>T g.193614802C>T - - OPA1_000236 ACMG PVS1, PS1, PS4, PM2, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F083P088II-1 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
+/. - c.112C>T r.(?) p.(Arg38Ter) - Parent #1 - pathogenic g.193332591C>T g.193614802C>T - - OPA1_000236 ACMG PVS1, PS1, PS4, PM2, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F122P130II-1 PubMed: Zheng 2024 - F - China - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.