| 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 (#0000246) |
| Disease |
EOPD |
| Reference |
Ibanez et al 2006 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
- |
| Ethnic origin |
- |
| Geographic origin |
- |
| Gender |
- |
| Age at onset |
- |
| Family history |
- |
| Symptom Bradykinesia |
- |
| Symptom Resting Tremor |
- |
| Symptom Rigidity |
- |
| Symptom Postural Instability |
- |
| Symptom Asymmetric onset |
- |
| L-Dopa responsive |
- |
| Symptom Dystonia |
- |
| Symptom REM sleep disorder |
- |
| Psychiatric abnormalities |
- |
| Symptom Dementia |
- |
| Symptom Loss of smell/taste |
- |
| Symptom Autonomic dysfunction |
- |
| Atypical clinical features |
- |
| Pathology |
- |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
1 |
| DNA change |
c.70_101del (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Lys24GlyfsX30 |
| Frequency |
- |
| DB-ID |
PINK1_00001 |
|
