Variant #0000405556 (NC_000003.11:g.193311175_193311180del, OPA1(NM_015560.2):c.9_14del)

Individual ID 00180923
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.193311175_193311180del
DNA change (hg38) g.193593386_193593391del
Published as -
ISCN -
DB-ID OPA1_000437
Variant remarks -
Reference PubMed: Hayashi 2017
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 Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 +?/? 1 c.9_14del r.(?) p.(Leu4_Arg5del) -
OPA1 NM_130837.2 +?/? 1 c.9_14del r.(?) p.(Leu4_Arg5del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181861 DNA SEQ Blood - OPA1 1 Thomas Foulonneau