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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+ 9 c.902T>G pathogenic r.(?) p.(Leu301*) - g.193353265T>G - - - OPA1_000426 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - Marc Ferre
+/+ 9 c.902T>G pathogenic r.(?) p.(Leu301*) - g.193353265T>G - - - OPA1_000426 - Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - Bastien Le Roux
+/+? - c.902T>G pathogenic r.(?) p.(Leu301*) - g.193353265T>G - - - OPA1_000426 - Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - - 0 - Marc Ferre
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