Individual #00000477

Reference Aroma Agape Gopalai et al.(2019)
Gender -
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


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000523 DNA TaqMan LRRK2 2 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)     

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RNA change     

Protein     

GVS function     

Clinical classification     
12 Unknown +/. g.40263898C>G N551K Aroma Agape Gopalai et al.(2019) LRRK2_000002 rs7308720 38/279 - Nur Aisyah Athirah LRRK2 - NM_198578.3:c.1653C>G - r.(?) -, p.(Asn150Lys), p.(Asn551Lys) - -, Benign
12 Unknown +/. g.40309109G>A R1398H Aroma Agape Gopalai et al.(2019) LRRK2_000003 rs7133914 45/279 - Nur Aisyah Athirah LRRK2 - NM_198578.3:c.4193G>A - r.(?) p.(Trp1398*), -, p.(Arg997His), p.(Arg1398His) - , Likely-Benign
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