Variant #0000406241 (NC_000003.11:g.193332724A>G, OPA1(NM_015560.2):c.245A>G)

Individual ID 00181404
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332724A>G
DNA change (hg38) g.193614935A>G
Published as -
ISCN -
DB-ID OPA1_000468 See all 2 reported entries
Variant remarks -
Reference Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site ApeKI+, BbvI+, Cac8I+, Fnu4HI+, MwoI+, TseI+
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marc Ferre
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+? - c.245A>G r.(?) p.(Tyr82Cys) -
OPA1 NM_130837.2 +/+? - c.245A>G r.(?) p.(Tyr82Cys) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182365 DNA SEQ Blood - OPA1 1 Marc Ferre