Variant #0000171830 (NC_000003.11:g.193332746G>A, OPA1(NM_015560.2):c.267G>A)

Individual ID 00105781
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.193332746G>A
DNA change (hg38) g.193614957G>A
Published as -
ISCN -
DB-ID OPA1_000327
Variant remarks -
Reference Mavrogiannis LA, Charlton RS (unpublished)
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 Lampros Mavrogiannis
Database submission license No license selected
Created by Lampros Mavrogiannis
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.267G>A r.(?) p.(Trp89*) -
OPA1 NM_130837.2 +/+? 2 c.267G>A r.(?) p.(Trp89*) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106252 DNA SEQ - - OPA1 1 Lampros Mavrogiannis