Genomic variant #0000487036

Individual ID 00240094
Chromosome 3
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332611dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000542
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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.132dup Pathogenie (dominant) r.(?) p.(His45Serfs*28) -
OPA1 NM_130837.2 +/+ 2 c.132dup Pathogenie (dominant) r.(?) p.(His45Serfs*28) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241198 DNA SEQ-NG-IT Blood - - 1 Marc Ferre