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.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

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Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

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dbSNP ID     

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Owner     
+/+? _1_31 c.0 pathogenic r.0 p.0 - Unknown g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline yes - - 0 - DNA arrayCGH Peripheral blood - OPA 26620927-PatII2 PubMed: Biamino 2016 4-generation family, 8 affected (6F, 2M), PatII2 F no ? (unknown) - 72y 0 - - 8 Thomas Foulonneau
+/+? _1_31 c.0 pathogenic r.0 p.0 - Unknown g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - DNA arrayCGH Peripheral blood - OPA II.3 PubMed: Biamino 2016 - M no ? (unknown) - 70y 0 - - 1 Thomas Foulonneau
+/+? _1_31 c.0 pathogenic r.0 p.0 - Unknown g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - DNA arrayCGH Peripheral blood - OPA III.1 PubMed: Biamino 2016 - M no ? (unknown) - 38y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 pathogenic r.0 p.0 - Unknown g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - DNA arrayCGH Peripheral blood - OPA III.4 PubMed: Biamino 2016 - F no ? (unknown) - 39y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 pathogenic r.0 p.0 - Unknown g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - DNA arrayCGH Peripheral blood - OPA III.5 PubMed: Biamino 2016 - F no ? (unknown) - 40y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 pathogenic r.0 p.0 - Unknown g.(192000000_193046853)_(194407385_195000000)del - g.193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - DNA arrayCGH Peripheral blood - OPA III.6 PubMed: Biamino 2016 - F no ? (unknown) - 48y 0 - - 1 Thomas Foulonneau
+/+? _1_31_ c.0 pathogenic r.0 p.0 - Maternal (confirmed) g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline yes - - 0 - DNA arrayCGH Peripheral blood - OPA IV.2 PubMed: Biamino 2016 - F no ? (unknown) - 09y 0 - - 1 Thomas Foulonneau
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