Variant #0000171638 (NC_000003.11:g.193333472C>T, OPA1(NM_015560.2):c.361C>T)

Individual ID 00105589
Chromosome 3
Allele Unknown
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.193333472C>T
DNA change (hg38) g.193615683C>T
Published as -
ISCN -
DB-ID OPA1_000168
Variant remarks eOPA1 identifier (obsolete):OA_00177; Nucleotide change: C to T at 361 (reference: OPA1 transcript variant 1, NM_015560.1)
Reference PubMed: Ferre 2009
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 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.361C>T r.(?) p.(Gln121*) -
OPA1 NM_130837.2 +/+? 3 c.361C>T r.(?) p.(Gln121*) Basic (exons 1-3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106060 DNA SEQ Blood - OPA1 1 Marc Ferre