Individual #00000653

Reference Shen-Yang Lim et al.(2021)
Gender F
Geographic origin Malaysia
Ethnic origin Indian
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


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000239 Age at PD onset: 60, Bradykinesia, Rigidity, Gait difficulty, Postural instability, Foot Dystonia - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000720 DNA MLPA;SEQ-NG PINK1 1 Nur Aisyah Athirah



Variants

1 entry on 1 page. Showing entry 1.
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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.20755T>C - Shen-Yang Lim et al.(2021): 10.1002/mds.20810 PINK1_000003 rs1553146903 - - Nur Aisyah Athirah PINK1 7 NM_032409.3:c.1466T>C - r.(?) p.(Leu489Pro) - Pathogenic
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