Individual #00000505

Reference Barry Eng et al.(2003)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases MLD
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 2021-03-11 09:28:18 +08:00 (CST)
Date last edited 2021-08-01 13:22:15 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000552 DNA SEQ ARSA 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     

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Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
22 Unknown +/. g.50626153C>T - Barry Eng et al.(2003) ARSA_000001 rs754722529 - - Nur Aisyah Athirah ARSA - NM_000487.5:c.979+1G>A c.973+1G>A r.spl? p.? - Likely Pathogenic
22 Unknown +/. g.50626211A>G - Barry Eng et al.(2003) ARSA_000002 rs199476379 - - Nur Aisyah Athirah ARSA - NM_000487.5:c.922T>C c.916T>C r.(?) p.(Tyr308His) - Uncertain significance
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