Genomic variant #0000353662

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 Marc Ferre




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) -