Genomic variant #0000171766

Individual ID 00105717
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.193333467_193333468del
DNA change (hg38) g.193615678_193615679del
Published as -
ISCN -
DB-ID OPA1_000290
Variant remarks -
Reference PubMed: Almind 2012
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 Angelique Caignard




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 ./. - c.356_357del - r.(?) p.(Phe119*) -
OPA1 NM_130837.2 +?/+? 3 c.356_357del likely pathogenic r.(?) p.(Phe119*) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106188 DNA SEQ Blood - OPA1 1 Angelique Caignard