Genomic variant #0000406336

Individual ID 00181498
Chromosome 3
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.193332669_193332673del
DNA change (hg38) -
Published as -
ISCN -
DB-ID OPA1_000459 See all 2 reported entries
Variant remarks -
Reference PubMed: Nasca 2017
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site EarI-,MboII-
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 +?/+? - c.190_194del - r.(?) p.(Ser64Aspfs*7) -
OPA1 NM_130837.2 +?/+? - c.190_194del likely pathogenic r.(?) p.(Ser64Aspfs*7) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182459 DNA SEQ-NG Muscle, peripheral blood, lymphocytes, fibroblasts - OPA1 2 Thomas Foulonneau