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.

11 entries on 1 page. Showing entries 1 - 11.
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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     
?/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) - - VUS g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - Erik-Jan Kamsteeg
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - - pathogenic g.193332592_193332609del g.193614803_193614820del 112_139del18 - OPA1_000082 eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Thiselton 2002 - - Germline - - - 0 - Marc Ferre
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - - pathogenic g.193332592_193332609del g.193614803_193614820del 112_139del18 - OPA1_000082 eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Thiselton 2002 - - Germline - - - 0 - Angelique Caignard
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - - likely pathogenic g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
./. - c.113_130del r.(?) p.(Arg38_Ser43del) - - pathogenic g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - Bjorn Oskarsson
-?/. - c.113_130del r.(?) p.(Arg38_Ser43del) - - likely benign g.193332592_193332609del g.193614803_193614820del OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del) - OPA1_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 2 c.113_130del r.(?) p.(Arg38_Ser43del) - - VUS g.193332592_193332609del g.193614803_193614820del OPA1:NM_130837.2:c.113_130del (Arg38_Ser43del) - OPA1_000082 VKGL data sharing initiative Nederland; Variant no longer found in the VKGL dataset for this center. - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) - - benign g.193332592_193332609del g.193614803_193614820del 113_130del18 - OPA1_000082 - PubMed: Tingaud-Sequeira 2017 - rs761926672 Germline - - - 0 - Johan den Dunnen
?/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) - - VUS g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Le Roux 2019, submitted - - Germline - - - 0 - Bastien Le Roux
+/+? - c.113_130del r.(?) p.(Arg38_Ser43del) - - pathogenic g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - Hpy188III- 0 - Marc Ferre
-?/. - c.113_130del r.(?) p.(Arg38_Ser43del) - - likely benign g.193332592_193332609del g.193614803_193614820del OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del) - OPA1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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