LOVD - Variant listings for PINK1

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Patient data (#0000290)
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 8
DNA change c.1557delG   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Leu519LeufsX4
Frequency -
DB-ID PINK1_00037

1 entry in PINK1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
+/+ Unknown 8 c.1557delG - p.Leu519LeufsX4 - PINK1_00037