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)     

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.305A>G pathogenic r.(?) p.(Tyr102Cys) Basic (exons 1-3) Unknown g.193332784A>G g.193614995A>G - - OPA1_000218 eOPA1 identifier (obsolete):OA_00227; Nucleotide change: A to G at 305 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Ferre 2009 - - Germline - - - 0 - DNA SEQ Blood - OPA - PubMed: Ferre 2009 - - - - - - 0 - - 1 Marc Ferre
+/+? 2 c.305A>G pathogenic r.(?) p.(Tyr102Cys) Basic (exon 1-3) Unknown g.193332784A>G g.193614995A>G - - OPA1_000218 eOPA1 identifier (obsolete):OA_00227; Nucleotide change: A to G at 305 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Ferre 2009 - - Germline - - - 0 - DNA SEQ Blood - OPA - Le Roux 2019, submitted - F - France - - 0 - - 1 Bastien Le Roux
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