Variant #0000760804 (NC_000003.11:g.193332539_193332540del, OPA1(NM_015560.2):c.60_61del)

Individual ID 00359493
Chromosome 3
Allele Paternal (inferred)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332539_193332540del
DNA change (hg38) g.193614750_193614751del
Published as -
ISCN -
DB-ID OPA1_000604
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Xingyu Xu
Database submission license No license selected
Created by Xingyu Xu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 -?/. 2 c.60_61del r.(?) p.(His20Glnfs*52) Basic
OPA1 NM_130837.2 +?/. 2 c.60_61del r.(?) p.(His20Glnfs*52) Basic



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360723 DNA SEQ-NG Blood - OPA1 1 Xingyu Xu