Variant #0000874319 (NC_000003.11:g.[193310511_193310604del;193310605_193311541inv;193311826_193312932del], OPA1(NM_015560.2):c.[-234_32+343{1};32+628_32+1734del])

Individual ID 00414999
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.[193310511_193310604del;193310605_193311541inv;193311826_193312932del]
DNA change (hg38) g.[193592722_193592815del;193592816_193593752inv;193594037_193595143del]
Published as g.193310511_193312933delins193310603_193311825[193310603_193310540inv]
ISCN inversion ex1
DB-ID OPA1_000688
Variant remarks 2.4 kb structural variant comprising a 937bp inversion of exon 1 and two flanking deletions
Reference PubMed: Weisschuh 2020, PubMed: Weisschuh 2021, Journal: Weisschuh 2021
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/. 1 c.[-234_32+343{1};32+628_32+1734del] r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416280 DNA PCR;SEQ - WGS OPA1 1 Johan den Dunnen