Full data view for 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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/? 2 c.43C>A likely benign r.(?) p.(Gln15Lys) Basic (exons 1-3) Unknown g.193332522C>A g.193614733C>A - - OPA1_000318 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - DNA SEQ - - OPA - Mavrogiannis LA, Charlton RS (unpublished) - - - - - - 0 - - 1 Lampros Mavrogiannis
-/. - c.43C>A benign r.(?) p.(Gln15Lys) - Unknown g.193332522C>A - OPA1:c.43C>A (Q15K) - OPA1_000318 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/-? - c.43C>A likely benign r.(?) p.(Gln15Lys) - Parent #1 g.193332522C>A - - - OPA1_000318 - Amati-Bonneau P, (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - HpyCH4V+, BsrI- 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
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