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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/+? 2 c.112C>T r.(?) p.(Arg38*) Basic (exons 1-3) - pathogenic g.193332591C>T g.193614802C>T - - OPA1_000236 eOPA1 identifier (obsolete):OA_00245; Nucleotide change: C to T at 112 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Nakamura 2006 - - Germline yes - - 0 - Marc Ferre
+?/. 2 c.112C>T r.? p.(Arg38*) Basic ACMG pathogenic (dominant) g.193332591C>T - - - OPA1_000236 - - - - Germline - - - 0 - Xingyu Xu
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