Individual #00000607

Reference Kung-Hao Liang et al.(2020)
Gender M
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases FD
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 2021-05-03 12:10:07 +08:00 (CST)
Date last edited 2021-08-01 14:17:23 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000673 DNA SEQ GLA 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)     

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RNA change     

Protein     

GVS function     

Clinical classification     
X Unknown +/. g.101399747C>T - Kung-Hao Liang et al.(2020) GLA_000002 rs199473684 - - Nur Aisyah Athirah GLA - NM_000169.2:c.640-801G>A IVS4+919G>A r.(=) p.(=) - Pathogenic
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