Variant #0000874321 (NC_000003.11:g.(?_193310933)_(193336726_193349400)del, OPA1(NM_015560.2):c.-234_(624+1_625-1){0})

Individual ID 00415001
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)_(193336726_193349400)del
DNA change (hg38) g.(?_193593144)_(193618937_193631611)del
Published as del ex1-5
ISCN -
DB-ID OPA1_000690
Variant remarks -
Reference PubMed: Weisschuh 2021, Journal: Weisschuh 2021
ClinVar ID -
dbSNP ID -
Origin Germline
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/. _1_5i c.-234_(624+1_625-1){0} r.0? p.(0?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416282 DNA SEQ - - OPA1 1 Johan den Dunnen