Genomic variant #0000405667

Individual ID 00180958
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332570C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000438
Variant remarks -
Reference PubMed: Ścieżyńska 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Thomas FOULONNEAU




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+? 2 c.91C>T - r.(?) p.(Gln31*) -
OPA1 NM_130837.2 +/+? 2 c.91C>T pathogenic r.(?) p.(Gln31*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181903 DNA PCRdig - - OPA1 1 Thomas FOULONNEAU