Variant #0001019650 (NC_000003.11:g.193317091_193435914del, NC_000003.11(NM_015560.2):c.32+5893_*23525del (OPA1))

Individual ID 00459011
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.193317091_193435914del
DNA change (hg38) g.193599302_193718125del
Published as -
ISCN -
DB-ID OPA1_000738
Variant remarks -
Reference PubMed: Wen 2023
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-12-23 17:24:53 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +/. 1i_29_ c.32+5893_*23525del r.? p.? -
OPA1 NM_130837.2 +/. - c.32+5893_*23525del r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000460632 DNA SEQ-NG - - OPA1 1 Johan den Dunnen


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