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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/+? - c.245A>G pathogenic r.(?) p.(Tyr82Cys) - g.193332724A>G - - - OPA1_000468 - Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - ApeKI+, BbvI+, Cac8I+, Fnu4HI+, MwoI+, TseI+ 0 - Marc Ferre
?/. - c.245A>G VUS r.(?) p.(Tyr82Cys) - g.193332724A>G - OPA1(NM_130837.2):c.245A>G (p.Y82C) - OPA1_000468 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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