Genomic variant #0000171855

Individual ID 00105806
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(193366661_193372650)_(193377351_193380610)dup
DNA change (hg38) -
Published as 2013-?_2520+?dup
ISCN -
DB-ID OPA1_000355
Variant remarks -
Reference Simmonds JH, Charlton RS (unpublished)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)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.(1847+1_1848-1)_(2355 +1_2356-1)dup r.? p.? -
OPA1 NM_130837.2 +?/+? 21i_25i c.(2012+1_2013-1)_(2520+1_2521-1)dup r.? p.? Dynamin Central (exons 18-26)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106277 DNA MLPA - - OPA1 1 Lampros Mavrogiannis