Variant #0000406280 (NC_000003.11:g.193372684_193372685del, NM_015560.2:c.1881_1882del (OPA1))

Individual ID 00181443
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.193372684_193372685del
DNA change (hg38) g.193654895_193654896del
Published as -
ISCN -
DB-ID OPA1_000013 See all 5 reported entries
Variant remarks -
Reference Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marc Ferre
Date created 2018-10-05 15:04:16 +02:00 (CEST)
Date last edited 2019-03-01 14:33:07 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/+? - c.1881_1882del r.(?) p.(Arg627Serfs*7) -
OPA1 NM_130837.2 +/+? - c.2046_2047del r.(?) p.(Arg682Serfs*7) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182404 DNA SEQ Blood - OPA1 1 Marc Ferre


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