Variant #0000171766 (NC_000003.11:g.193333467_193333468del, OPA1(NM_015560.2):c.356_357del)

Individual ID 00105717
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.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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner Angelique Caignard
Database submission license No license selected
Created by Angelique Caignard
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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