Genomic variant #0000171736

Individual ID 00105687
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.(192802437_193311166)_(193336726_193343880)del
DNA change (hg38) -
Published as del ex1-5
ISCN -
DB-ID OPA1_000266
Variant remarks eOPA1 identifier (obsolete):OA_00280; Nucleotide change: Deletion of exons 1-5 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 5 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature; 5' markers D3S1601 and D3S3642 not deleted
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)_(624+1_625-1)del - r.0? p.0? -
OPA1 NM_130837.2 +/+? _1_6i c.(?_-1)_(678+1_679-1)del pathogenic r.0? p.0? Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106158 DNA SEQ Blood - OPA1 1 Marc Ferre