Genomic variant #0000406323

Individual ID 00181486
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(193376785_193377270)_(193384179_193384958)dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000523
Variant remarks -
Reference PubMed: Chen 2014
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 Thomas Foulonneau




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+? - c.(2275+1_2276-1)_(2707+1_2708-1)dup - r.? p.? -
OPA1 NM_130837.2 +/+? - c.(2440+1_2441-1))_(2872+1_2873-1)dup pathogenic r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182447 DNA SEQ Blood - OPA1 1 Thomas Foulonneau