All variants in the OPA1 gene

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A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
This database is also one of the "Eye disease" gene variant databases.
 
Information The variants shown are described using the transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.575C>T - p.(Ala192Val) - - benign g.193336676C>T g.193618887C>T - - OPA1_000048 eOPA1 identifier (obsolete):OA_00051; Nucleotide change: C to T at 575 (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.575C>T r.(?) p.(Ala192Val) - - benign g.193336676C>T g.193618887C>T OPA1(NM_130837.2):c.629C>T (p.A210V) - OPA1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.575C>T r.(?) p.(Ala192Val) - - benign g.193336676C>T g.193618887C>T OPA1(NM_130837.2):c.629C>T (p.A210V) - OPA1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.575C>T - p.(Ala192Val) - - likely benign g.193336676C>T g.193618887C>T - - OPA1_000048 83 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34307082 Germline - 83/2795 individuals - 0 - Mohammed Faruq
-/. - c.575C>T r.(?) p.(Ala192Val) - - benign g.193336676C>T g.193618887C>T OPA1(NM_130837.2):c.629C>T (p.A210V) - OPA1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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