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.
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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     
+/+? 3i c.448+2T>G pathogenic r.spl p.? Basic (exons 1-3) g.193333561T>G g.193615772T>G - - OPA1_000169 eOPA1 identifier (obsolete):OA_00178; Nucleotide change: T to G at 448+2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect PubMed: Ferre 2009 - - Germline - - - 0 - Marc Ferre
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