Genomic variant #0000406324

Individual ID 00181487
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.193334933dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000471
Variant remarks -
Reference PubMed: Li 2017
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site AflII+, MseI+, SmlI+, DdeI-
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)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/? - c.449-34dup - r.(?) p.? -
OPA1 NM_130837.2 +/? - c.449-34dup pathogenic r.(?) p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182448 DNA SEQ Blood - OPA1 1 Thomas Foulonneau