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)     

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     
?/. 2 c.113_130del VUS r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - Erik-Jan Kamsteeg
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) 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
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) 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
+?/+? 2 c.113_130del likely pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis
+/+? 2 c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - - - - Germline - - - 0 - Bjorn Oskarsson
-?/. - c.113_130del likely benign r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del - OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del) - OPA1_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.113_130del VUS r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del - OPA1:NM_130837.2:c.113_130del (Arg38_Ser43del) - OPA1_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 2 c.113_130del benign r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del g.193614803_193614820del 113_130del18 - OPA1_000082 - PubMed: Tingaud-Sequeira 2017 - rs761926672 Germline - - - 0 - Johan den Dunnen
?/. 2 c.113_130del VUS r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del g.193614803_193614820del - - OPA1_000082 - Le Roux 2019, submitted - - Germline - - - 0 - Bastien Le Roux
+/+? - c.113_130del pathogenic r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del - - - OPA1_000082 - Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted - - Germline/De novo (untested) - - Hpy188III- 0 - Marc Ferre
-?/. - c.113_130del likely benign r.(?) p.(Arg38_Ser43del) - g.193332592_193332609del - 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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