Full data view for gene OPA1

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A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
This database is also one of the "Eye disease" gene variant databases.
 
Information The variants shown are described using the transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.869G>A r.(?) p.(Arg290Gln) - Unknown - pathogenic g.193355069G>A g.193637280G>A - - OPA1_000020 eOPA1 identifier (obsolete):OA_00021; Nucleotide change: G to A at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Alexander 2000 - - Germline no - - - - DNA SEQ Blood - OPA - PubMed: Alexander 2000 - - - Cuba - - - - - 1 Marc Ferre
./. - c.869G>A r.(?) p.(Arg290Gln) - Unknown - pathogenic g.193355069G>A g.193637280G>A - - OPA1_000020 eOPA1 identifier (obsolete):OA_00021; Nucleotide change: G to A at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Alexander 2000 - - Germline - - - - - DNA SEQ Blood - OPA - - - M - - - - - - - 1 Angelique Caignard
+/+? - c.869G>A r.(?) p.(Arg290Gln) GTPase (exon 10-17) Unknown - pathogenic g.193355069G>A g.193637280G>A - - OPA1_000020 eOPA1 identifier (obsolete):OA_00021; Nucleotide change: G to A at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Alexander 2000 - - Germline - - - - - DNA SEQ Blood - OPA - Le Roux 2019, submitted - M - France - - - - - 1 Bastien Le Roux
+?/+? 9 c.869G>A r.(?) p.(Arg290Gln) - Unknown - likely pathogenic g.193355069G>A g.193637280G>A - - OPA1_000020 - PubMed: Pretegiani 2017 - - Germline - - - - - DNA SEQ Blood - OPA M1 PubMed: Pretegiani 2017 7 families, 27 probands, 2 asymptomatic carriers ? no Italy - - - - - 27 Thomas Foulonneau
?/. 8 c.869G>A r.? p.(Arg290Gln) GTPase Unknown ACMG likely pathogenic g.193355069G>A - - - OPA1_000020 - - - - Germline - - - - - DNA SEQ Blood - OPA - - - F - China Asian - - - - 1 Xingyu Xu
+/. 8 c.869G>A r.(?) p.(Arg290Gln) - Unknown - pathogenic (dominant) g.193355069G>A g.193637280G>A - - OPA1_000020 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 8/278 case families - - - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.869G>A r.(?) p.(Arg290Gln) - Unknown - pathogenic (dominant) g.193355069G>A g.193637280G>A - - OPA1_000020 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 8/278 case families - - - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.869G>A r.(?) p.(Arg290Gln) - Unknown - pathogenic (dominant) g.193355069G>A g.193637280G>A - - OPA1_000020 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 8/278 case families - - - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.869G>A r.(?) p.(Arg290Gln) - Unknown - pathogenic (dominant) g.193355069G>A g.193637280G>A - - OPA1_000020 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 8/278 case families - - - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.869G>A r.(?) p.(Arg290Gln) - Unknown - pathogenic (dominant) g.193355069G>A g.193637280G>A - - OPA1_000020 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 8/278 case families - - - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.869G>A r.(?) p.(Arg290Gln) - Unknown - pathogenic (dominant) g.193355069G>A g.193637280G>A - - OPA1_000020 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 8/278 case families - - - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.869G>A r.(?) p.(Arg290Gln) - Unknown - pathogenic (dominant) g.193355069G>A g.193637280G>A - - OPA1_000020 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 8/278 case families - - - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.869G>A r.(?) p.(Arg290Gln) - Unknown - pathogenic (dominant) g.193355069G>A g.193637280G>A - - OPA1_000020 - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline - 8/278 case families - - - DNA SEQ - - OPA - PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - - - - - - - - 1 Johan den Dunnen
+/. - c.869G>A r.(?) p.(Arg290Gln) - Unknown ACMG pathogenic (dominant) g.193355069G>A g.193637280G>A NM_015560.2:c.869G>A (Arg290Gln) - OPA1_000020 ACMG PS3, PM1, PM2, PM5, PP2, PP3, PP5 PubMed: Marinakis 2021 - rs121908375 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? 20106 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
+?/. - c.869G>A r.(?) p.(Arg290Gln) - Unknown ACMG likely pathogenic g.193355069G>A g.193637280G>A - - OPA1_000020 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 5084 - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? OAK-796 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.869G>A r.(?) p.(Arg290Gln) - Parent #1 - pathogenic g.193355069G>A g.193637280G>A - - OPA1_000020 ACMG PS4, PM2, PM5, PM6, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F063P067II-1 PubMed: Zheng 2024 - F - China - - - - - 1 Johan den Dunnen
+/. - c.869G>A r.(?) p.(Arg290Gln) - Parent #1 - pathogenic g.193355069G>A g.193637280G>A - - OPA1_000020 ACMG PS4, PM2, PM5, PM6, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F064P068II-1 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
+/. - c.869G>A r.(?) p.(Arg290Gln) - Parent #1 - pathogenic g.193355069G>A g.193637280G>A - - OPA1_000020 ACMG PS4, PM2, PM5, PM6, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F089P094II-1 PubMed: Zheng 2024 - F - China - - - - - 1 Johan den Dunnen
+/. - c.869G>A r.(?) p.(Arg290Gln) - Parent #1 - pathogenic g.193355069G>A g.193637280G>A - - OPA1_000020 ACMG PS4, PM2, PM5, PM6, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F098P103II-1 PubMed: Zheng 2024 - F - China - - - - - 1 Johan den Dunnen
+/. - c.869G>A r.(?) p.(Arg290Gln) - Parent #1 - pathogenic g.193355069G>A g.193637280G>A - - OPA1_000020 ACMG PS4, PM2, PM5, PM6, PP1, PP3, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F111P118II-1 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
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