Variant #0000663250 (NC_000003.11:g.193311173C>T, OPA1(NM_015560.2):c.7C>T)

Individual ID 00299428
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.193311173C>T
DNA change (hg38) g.193593384C>T
Published as -
ISCN -
DB-ID OPA1_000581
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +?/+? 1 c.7C>T r.(?) p.(Arg3*) -
OPA1 NM_130837.2 +?/+? 1 c.7C>T r.(?) p.(Arg3*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000300538 DNA SEQ-NG Blood - OPA1 1 Marc Ferre