Variant #0000829794 (NC_000003.11:g.193332532_193332541del, OPA1(NM_015560.2):c.53_62del)

Individual ID 00396483
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.193332532_193332541del
DNA change (hg38) g.193614743_193614752del
Published as OPA1 c.53_62delTGAAACACAG, p.Val18fs
ISCN -
DB-ID OPA1_000678
Variant remarks only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees,
Reference PubMed: Dockery 2017
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 LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +?/. - c.53_62del r.(?) p.(Val18Alafs*4) -
OPA1 NM_130837.2 +?/. - c.53_62del r.(?) p.(Val18Alafs*4) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000397726 DNA SEQ-NG-I blood panel of 254 genes implicated in retinopathies OPA1 1 LOVD