Genomic variant #0000369133

Individual ID 00164605
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332592_193332609del
DNA change (hg38) g.193614803_193614820del
Published as -
ISCN -
DB-ID OPA1_000082 See all 10 reported entries
Variant remarks -
Reference Le Roux 2019, submitted
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 Bastien Le Roux




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ?/. 2 c.113_130del - r.(?) p.(Arg38_Ser43del) -
OPA1 NM_130837.2 ?/. 2 c.113_130del VUS r.(?) p.(Arg38_Ser43del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165469 DNA SEQ Blood - OPA1 1 Bastien Le Roux