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.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.239A>G r.(?) p.(Tyr80Cys) - Unknown - pathogenic g.193332718A>G g.193614929A>G - - OPA1_000139 eOPA1 identifier (obsolete):OA_00148; Nucleotide change: A to G at 239 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Han 2006 - - Germline - - - 0 - DNA SEQ Blood - OPA - PubMed: Han 2006 - - - - - - 0 - - 1 Marc Ferre
+/+? - c.239A>G r.(?) p.(Tyr80Cys) - Unknown - pathogenic g.193332718A>G g.193614929A>G - - OPA1_000139 eOPA1 identifier (obsolete):OA_00148; Nucleotide change: A to G at 239 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Han 2006 - - Germline - - - 0 - DNA SEQ Blood - OPA - Le Roux 2019, submitted - M - France - - 0 - - 1 Bastien Le Roux
-?/. - c.239A>G r.(?) p.(Tyr80Cys) - Unknown - likely benign g.193332718A>G g.193614929A>G OPA1(NM_130837.2):c.239A>G (p.Y80C) - OPA1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend