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.

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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     
+/. 8 c.800_801del ACMG: 5 r.(?) p.(Lys267Argfs*4) - g.193349411_193349412del g.193631622_193631623del 800_801delAA - OPA1_000026 - PubMed: de Castro-Miró 2016 - - Germline yes - - 0 - Marta de Castro-Miró
+/+? 8 c.800_801del pathogenic r.(?) p.(Lys267Argfs*4) Non-specific domain 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
+/+? 8 c.800_801del pathogenic r.(?) p.(Lys267Argfs*4) Non-specific domain 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
Legend