Variant #0000874185 (NC_000003.11:g.193332633C>T, OPA1(NM_015560.2):c.154C>T)

Individual ID 00414865
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.193332633C>T
DNA change (hg38) g.193614844C>T
Published as -
ISCN -
DB-ID OPA1_000166 See all 5 reported entries
Variant remarks -
Reference PubMed: Weisschuh 2021, Journal: Weisschuh 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 4/278 case families
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 +/. 2 c.154C>T r.(?) p.(Arg52Ter) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416146 DNA SEQ - - OPA1 1 Johan den Dunnen