Genomic variant #0000406239

Individual ID 00181402
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.193332529T>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000465
Variant remarks -
Reference Amati-Bonneau P, Angers2014 (unpublished); Le Roux 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site BpuEI+, SmlI+
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 +/+? - c.50T>G - r.(?) p.(Leu17*) -
OPA1 NM_130837.2 +/+? - c.50T>G pathogenic r.(?) p.(Leu17*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182363 DNA SEQ Blood - OPA1 1 Marc Ferre