Variant #0000369065 (NC_000003.11:g.193332703del, OPA1(NM_015560.2):c.224del)

Individual ID 00164541
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332703del
DNA change (hg38) g.193614914del
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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner Bastien Le Roux
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marc Ferre
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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