Genomic variant #0000171743

Individual ID 00105694
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)_(193385070_193409851)dup
DNA change (hg38) -
Published as 33-?_2983+?dup
ISCN -
DB-ID OPA1_000273
Variant remarks eOPA1 identifier (obsolete):OA_00287; Nucleotide change: Large duplication of exons 2-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 2 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Detected by MLP
Reference Mavrogiannis LA, Prescott K, Charlton RS (unpublished)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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)_(2818+1_2819-1)dup - r.? p.? -
OPA1 NM_130837.2 +?/+? 1i_29i c.(32+1_33-1)_(2983+1_2984-1)dup likely pathogenic r.? p.? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106165 DNA MLPA Blood - OPA1 1 Lampros Mavrogiannis