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.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

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Panel size     

Owner     
+/+? 2 c.344C>T pathogenic r.(?) p.(Ala115Val) Basic (exons 1-3) Unknown g.193332823C>T g.193615034C>T - - OPA1_000253 eOPA1 identifier (obsolete):OA_00266; Nucleotide change: C to T at 344 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Yu-Wai-Man 2010 - - Germline - - - 0 - DNA SEQ Blood - OPA - PubMed: Yu-Wai-Man 2010 - - - Italy - - 0 - - 1 Marc Ferre
+/+? - c.344C>T pathogenic r.(?) p.(Ala115Val) - Parent #1 g.193332823C>T - - - OPA1_000253 - Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - HpyCH4III+ 0 - DNA SEQ Blood - OPA - Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted - - - (France) - - 0 - - 1 Marc Ferre
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