Genomic variant #0000171740

Individual ID 00105691
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(191677608_193311166)_(193732134_195310989)del
DNA change (hg38) -
Published as del ex1-29, c.1-?_3048+?del
ISCN -
DB-ID OPA1_000270
Variant remarks eOPA1 identifier (obsolete):OA_00284; Nucleotide change: Complete deletion (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 28 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature; 5' deletion includes D3S3669 but not D3S1601, 3' includes D3S2748 but not D3S1305
Reference PubMed: Fuhrmann 2009
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 Marc Ferre




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.(?_-1)_(*3211_?)del - r.0? p.0? -
OPA1 NM_130837.2 +/+? _1_31_ c.(?_-1)_(*3211_?)del pathogenic r.0? p.0? 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     
0000106162 DNA SEQ Blood - OPA1 1 Marc Ferre