Genomic variant #0000405556

Individual ID 00180923
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.193311175_193311180del
DNA change (hg38) -
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 (large NGS studies) Variant not found in online data sets
Owner Thomas Foulonneau




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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 likely pathogenic r.(?) p.(Leu4_Arg5del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181861 DNA SEQ Blood - OPA1 1 Thomas Foulonneau