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




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