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Reference Amati-Bonneau P, Angers2014 (unpublished); Le Roux 2019, submitted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




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