LOVD - Variant listings for PINK1

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Patient data (#0000298)
Disease EOPD
Reference Marongiu et al 2008
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 Unknown
Concluded pathogenicity Unknown
Exon 1
DNA change c.332T>G   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.I111S
Frequency -
DB-ID PINK1_00044

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 1 c.332T>G - p.I111S - PINK1_00044