Genomic variant #0000487441

Individual ID 00240360
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332672_193332673del
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000544
Variant remarks -
Reference -
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+ 2 c.193_194del Pathogenic (dominant) r.(?) p.(Leu65Aspfs*7) -
OPA1 NM_130837.2 +/+ 2 c.193_194del Pathogenic (dominant) r.(?) p.(Leu65Aspfs*7) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241465 DNA SEQ-NG-IT Blood - - 1 Marc Ferre