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)     

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     
-?/? 2 c.43C>A likely benign r.(?) p.(Gln15Lys) Basic (exons 1-3) g.193332522C>A g.193614733C>A - - OPA1_000318 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
-/. - c.43C>A benign r.(?) p.(Gln15Lys) - g.193332522C>A - OPA1(NM_130837.2):c.43C>A (p.Q15K) - OPA1_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/-? - c.43C>A likely benign r.(?) p.(Gln15Lys) - g.193332522C>A - - - OPA1_000318 - Amati-Bonneau P, (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - HpyCH4V+, BsrI- 0 - Marc Ferre
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