Genomic variant #0000369065

Individual ID 00164541
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332703del
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000423 See all 2 reported entries
Variant remarks -
Reference Le Roux 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Bastien Le Roux




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+ 2 c.224del - r.(?) p.(Phe75Serfs*19) -
OPA1 NM_130837.2 +/+ 2 c.224del pathogenic r.(?) p.(Phe75Serfs*19) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165405 DNA SEQ Blood - OPA1 1 Bastien Le Roux