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.

1 entry on 1 page. Showing entry 1.
Legend  

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     
+/+? - c.(32+1_33-1)_(351+1_352-1)dup pathogenic r.? p.? - g.(193311199_193332511)_(193332831_193333462)dup - - - OPA1_000463 - PubMed: Chen 2014 - - Germline/De novo (untested) - - - 0 - Thomas Foulonneau
Legend