Variant #0000405554 (NC_000003.11:g.(192000000_193046853)_(194407385_195000000)del, OPA1(NM_015560.2):c.0)
Individual ID |
00180921 |
Chromosome |
3 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
pathogenic |
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
Screenings
|
|