Individual #00000617

Reference Shen Yang Lim et al.(2021): https://www.neurology-asia.org/articles/neuroasia-2021-26(1)-161.pdf
Gender F
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases PD
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-05-06 10:11:25 +08:00 (CST)
Date last edited 2021-08-01 12:28:13 +08:00 (CST)


Phenotypes

Parkinson’s disease (PD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000218 Age at PD motor symptom onset: 13, Bradykinesia, Rigidity, Tremor, Gait difficulty, Gait freezing, Postural instability/Falls, Dystonia, Obvious asymmetry, Diurnal variation, Sleep benefit, Clear favourable response to dopaminergic medication, Motor fluctuations, LD-induced dyskinesias, Insomnia, Mild Depression, Anxiety, Mild cognitive impairment - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000683 DNA MLPA;SEQ-NG PINK1 1 Nur Aisyah Athirah
0000000684 DNA MLPA;SEQ-NG PRKN 1 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
1 Unknown ?/. g.17194G>C - Shen Yang Lim et al.(2021): https://www.neurology-asia.org/articles/neuroasia-2021-26(1)-161.pdf PINK1_000001 rs764648391 - - Nur Aisyah Athirah PINK1 - NM_032409.3:c.1048G>C Val350Leu r.(?) p.(Val350Leu) - Uncertain Significance
6 Both (homozygous) +/. g.161350176A>G - Shen-Yang Lim et al.(2021): https://www.neurology-asia.org/articles/neuroasia-2021-26(1)-161.pdf PRKN_000001 rs778305273 - - Nur Aisyah Athirah PRKN 12 NM_004562.2:c.1321T>C - r.(?) p.(Cys441Arg) - Pathogenic
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