All transcript variants in gene OPA1

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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     
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
+/+? 5i c.610+360G>A pathogenic r.(?) p.? Non-specific domain g.193335986G>A g.193618197G>A - - OPA1_000283 - PubMed: Bonifert 2014 - - Germline - - - 0 - Tobias Bonifert
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