All variants in the OPA1 gene

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     
-/-? 7 c.768C>G - p.(Ser256Arg) Non-specific domain - benign g.193343970C>G g.193626181C>G - - OPA1_000254 eOPA1 identifier (obsolete):OA_00267; Nucleotide change: C to G at 768 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Yu-Wai-Man 2010 - - Germline - - - 0 - Marc Ferre
-/-? 7 c.768C>G - p.(Ser256Arg) Non-specific domain - benign g.193343970C>G g.193626181C>G - - OPA1_000254 eOPA1 identifier (obsolete):OA_00268; Location: exon 5b to exon 8 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;c ompound heterozygous mutation for C to G at 768 and A to G at 1019 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Yu-Wai-Man 2010 - - Germline - - - 0 - Marc Ferre
+/? 7 c.768C>G r.(?) p.(Ser256Arg) - - pathogenic g.193343970C>G g.193626181C>G - - OPA1_000254 Variation in an alternative exon PubMed: Yu-Wai-Man 2014 - - Germline - - - 0 - Thomas Foulonneau
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