| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| Patient data (#0025583) |
| Phenotype |
catecholaminergic polymorphic ventricular tachycardia (CPVT) |
| Phenotype additional |
resting ECG following cardiac resuscitation numerous polymorphic or bidirectional ventricular extra beats/runs of polymorphic ventricular tachycardia; 2y-died in hospital after 3 weeks after severe post-anoxic com |
| Reference |
JdD |
| Remarks |
2-generation family, 1 affected (unaffected carrier parents and brother) |
| Geographic origin |
French West Indies |
| Ethnic origin |
- |
| Gender |
M |
| Inheritance |
isolated (sporadic) |
| Consanguinity |
no |
| Fam_Pat |
- |
| # reported |
1 |
| CK level |
- |
| Protein data |
- |
| Submitter |
Johan den Dunnen |
| Variant data |
| Allele |
Maternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
2 |
| DNA change |
c.del53_56 |
| Var_pub_as |
del53_56ACAG (D18Afs*13) |
| RNA change |
r.(?) |
| Protein change |
p.(Asp18Alafs*14) |
| DB-ID |
TRDN_00001 |
| Variant remarks |
haplotype analysis suggestive of remote common ancestor |
| Genet_ori |
germline (inherited) |
| Reference |
Roux-Buisson 2012 |
| Template |
DNA |
| Technique |
SEQ |
| Frequency |
- |
| RE-site |
- |
|
