Genomic variant #0000405661

Individual ID 00180953
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.193343970C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000254 See all 3 reported entries
Variant remarks Variation in an alternative exon
Reference PubMed: Yu-Wai-Man 2014
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_130837.2 +/? 7 c.768C>G pathogenic r.(?) p.(Ser256Arg) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181898 DNA ? - - OPA1 2 Thomas Foulonneau