Genomic variant #0000405554

Individual ID 00180921
Chromosome 3
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(192000000_193046853)_(194407385_195000000)del
DNA change (hg38) -
Published as 193046853_194407385del
ISCN -
DB-ID OPA1_000431 See all 7 reported entries
Variant remarks 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1
Reference PubMed: Biamino 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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_29_ c.0 pathogenic r.0 p.0 -
OPA1 NM_130837.2 +/+? _1_31_ c.0 pathogenic r.0 p.0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181859 DNA arrayCGH Peripheral blood - OPA1 1 Thomas FOULONNEAU