Genomic variant #0000369103

Individual ID 00164578
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193353265T>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000426 See all 3 reported entries
Variant remarks -
Reference Le Roux 2019, submitted
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 Bastien Le Roux
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+ 7 c.737T>G - r.(?) p.(Leu246*) -
OPA1 NM_130837.2 +/+ 9 c.902T>G pathogenic r.(?) p.(Leu301*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165442 DNA SEQ Blood - OPA1 1 Bastien Le Roux