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)     

RNA change     

Protein     

P-domain     

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     

Owner     
./. - c.629C>A r.(?) p.(Ser210*) - - pathogenic g.193349405C>A g.193631616C>A - - OPA1_000088 eOPA1 identifier (obsolete):OA_00097; Nucleotide change: C to A at 629 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Pesch 2001 - - Germline - - - 0 - Marc Ferre
./. - c.629C>A r.(?) p.(Ser210*) - - likely pathogenic g.193349405C>A g.193631616C>A - - OPA1_000088 eOPA1 identifier (obsolete):OA_00097; Nucleotide change: C to A at 629 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Pesch 2001 - - Germline - - - 0 - Angelique Caignard
+/+ 6 c.629C>A r.(?) p.(Ser210*) - - pathogenic (dominant) g.193349405C>A g.193631616C>A - - OPA1_000088 - - - - Germline/De novo (untested) ? - - 0 - Marc Ferre
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