Variant #0000874326 (NC_000003.11:g.(?_193310933)_(193415600_?)del, OPA1(NM_015560.2):c.-234_*3211{0})

Individual ID 00415006
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.(?_193310933)_(193415600_?)del
DNA change (hg38) g.(?_193593144)_(193697811_?)del
Published as del entire gene c.(?_-1)_(*3211_?)del
ISCN -
DB-ID OPA1_000691
Variant remarks -
Reference PubMed: Weisschuh 2021, Journal: Weisschuh 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/. _1_29 c.-234_*3211{0} r.0 p.0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416287 DNA SEQ - - OPA1 1 Johan den Dunnen