Genomic variant #0000351524

Individual ID 00151830
Chromosome 3
Allele Maternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332592_193332609del
DNA change (hg38) g.193614803_193614820del
Published as 113_130del18
ISCN -
DB-ID OPA1_000082 See all 10 reported entries
Variant remarks -
Reference PubMed: Tingaud-Sequeira 2017
ClinVar ID -
dbSNP ID rs761926672
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
OPA1 NM_015560.2 -/. 2 c.113_130del - r.(?) p.(Arg38_Ser43del) -
OPA1 NM_130837.2 -/. 2 c.113_130del benign r.(?) p.(Arg38_Ser43del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152687 DNA SEQ - - ABHD12 2 Johan den Dunnen