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.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
./. - c.635_636del r.(?) p.(Lys212Argfs*4) - - pathogenic g.193349411_193349412del g.193631622_193631623del - - OPA1_000026 eOPA1 identifier (obsolete):OA_00028; Nucleotide change: Deletion of 2 nucleotides at 635_636 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Toomes 2001 - - Germline - - - 0 - Marc Ferre
./. - c.635_636del r.(?) p.(Lys212Argfs*4) - - pathogenic g.193349411_193349412del g.193631622_193631623del - - OPA1_000026 eOPA1 identifier (obsolete):OA_00272; Nucleotide change: Deletion of AA at 635_636 and G to A at 1642 with alleles unknown (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 6 to exon 17 (reference: OPA1 transcript variant 1, NM_015560.1) PubMed: Yu-Wai-Man 2010 - - Germline - - - 0 - Marc Ferre
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