Genomic variant #0000171749

Individual ID 00105700
Chromosome 3
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.(193333560_193334966)_(193355071_193355740)dup
DNA change (hg38) -
Published as 449-?_1035+?dup
ISCN -
DB-ID OPA1_000279
Variant remarks Large duplication of exons 4-8 (reference: OPA1 transcript variant 1, NM_015560.1) detected by MLPA
Reference Mavrogiannis LA, Robertson L, Charlton RS (unpublished)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.(448+1_449-1)_(870+1_871-1)dup - r.? p.? -
OPA1 NM_130837.2 +?/? 3i_10i c.(448+1_449-1)_(1035+1_1036-1)dup likely pathogenic r.? p.? GTPase (exons 10-17)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106171 DNA MLPA Blood - OPA1 1 Lampros Mavrogiannis