Variant #0000406322 (NC_000003.11:g.(193375022_193376675)_(193376785_193377270)del, OPA1(NM_015560.2):c.(2166+1_2167-1)_(2275+1_2276_1)del)

Individual ID 00181485
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(193375022_193376675)_(193376785_193377270)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000521
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+? - c.(2166+1_2167-1)_(2275+1_2276_1)del r.? p.? -
OPA1 NM_130837.2 +/+? - c.(2331+1_2332-1)_(2440+1_2441-1)del r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182446 DNA SEQ Blood - OPA1 1 Thomas Foulonneau