Variant #0000785851 (NC_000003.11:g.(193333560_193334966)_(193377351_193380610)del, OPA1(NM_015560.2):c.(448+1_449-1)_(2355+1_2356-1)del)

Individual ID 00373706
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(193333560_193334966)_(193377351_193380610)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000621
Variant remarks -
Reference -
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 Nicole Weisschuh
Database submission license No license selected
Created by Nicole Weisschuh
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +?/. - c.(448+1_449-1)_(2355+1_2356-1)del r.(?) p.(Glu150Valfs*5) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000374939 DNA SEQ - - OPA1 1 Nicole Weisschuh