Genomic variant #0000353665

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 Marc Ferre
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*) -