Genomic variant #0000171850

Individual ID 00105801
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(193311199_193332511)_(193333560_193334966)del
DNA change (hg38) -
Published as 33-?_448+?del
ISCN -
DB-ID OPA1_000349
Variant remarks -
Reference Mavrogiannis LA, Charlton RS (unpublished)
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 Lampros Mavrogiannis




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.(32+1_33-1)_(448+1_449-1)del - r.spl p.? -
OPA1 NM_130837.2 +?/+? 1i_3i c.(32+1_33-1)_(448+1_449-1)del likely pathogenic r.spl p.? Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106272 DNA MLPA - - OPA1 1 Lampros Mavrogiannis