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
Options




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