Genomic variant #0000405756

Individual ID 00181019
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(193000000_193409851)_(193415602_194000000)del
DNA change (hg38) -
Published as Heterozygous deletion of exons 28 and 29 of OPA1
ISCN -
DB-ID OPA1_000456
Variant remarks -
Reference PubMed: Lynch 2017
ClinVar ID -
dbSNP ID -
Origin Germline
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 +/+? _28_29_ c.(2818+1_2819-1)_(*3212_?)del - r.(?) p.? -
OPA1 NM_130837.2 +/+? _30_31_ c.(2983+1_ 2984-1)_(*3212_?)del pathogenic r.(?) p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181967 protein Western - - OPA1 1 Thomas Foulonneau