Variant #0000405667 (NC_000003.11:g.193332570C>T, OPA1(NM_015560.2):c.91C>T)

Individual ID 00180958
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332570C>T
DNA change (hg38) g.193614781C>T
Published as -
ISCN -
DB-ID OPA1_000438 See all 2 reported entries
Variant remarks -
Reference PubMed: Ścieżyńska 2017
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 Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+? 2 c.91C>T r.(?) p.(Gln31*) -
OPA1 NM_130837.2 +/+? 2 c.91C>T r.(?) p.(Gln31*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181903 DNA PCRdig - - OPA1 1 Thomas Foulonneau