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Reference Mavrogiannis LA, Robertson L, Charlton RS (unpublished)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
Options




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