Genomic variant #0000405548

Individual ID 00180916
Chromosome 3
Allele Unknown
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 -
Frequency -
Re-site -
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 +/+? _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     
0000181853 DNA arrayCGH Peripheral blood - OPA1 1 Thomas Foulonneau