Variant #0000708824 (NC_000003.11:g.193333485T>C, OPA1(NM_015560.2):c.374T>C)

Individual ID 00324497
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.193333485T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000592
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.374T>C r.(?) p.(Met125Thr) -
OPA1 NM_130837.2 +?/+? 3 c.374T>C r.(?) p.(Met125Thr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325688 DNA SEQ-NG Blood - DNM1L, OPA1 3 Marc Ferre