Variant #0000874180 (NC_000003.11:g.193311172G>A, OPA1(NM_015560.2):c.6G>A)

Individual ID 00414860
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.193311172G>A
DNA change (hg38) g.193593383G>A
Published as -
ISCN -
DB-ID OPA1_000087 See all 2 reported entries
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 c.6G>A r.(?) p.(Trp2Ter) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416141 DNA SEQ - - OPA1 1 Johan den Dunnen